It is characterized by intellectual disability, severe speech problems, dental abnormalities, abnormalities of the head and face (craniofacial anomalies), and behavioral problems. BREAKING NEWS 2023 Chicago Election Results. SATB2-associated syndrome is a condition that affects several body systems. Of the 19, all had neurodevelopmental impairment, 16 had absent/near absent speech, 17 had normal somatic growth, 9 had cleft palate, 12 had drooling, and 8 had dental anomalies. Ada Hamosh, MD, MPH [Full Text: https://doi.org/10.1016/j.ajhg.2011.01.003], Glass, I. Interstitial deletion of the long arm of chromosome 2 with normal levels of isocitrate dehydrogenase. The del(2)(q32.2q33) deletion syndrome defined by clinical and molecular characterization of four patients. She had prenatal and postnatal growth retardation, microcephaly, facial dysmorphism, cleft palate, camptodactyly, bilateral talipes equinovarus, severe intellectual disability, and ectodermal anomalies. Additional features included tall forehead, bushy eyebrows, prominent nose, cleft palate, narrow maxilla with malocclusion, oligodontia, and abnormally shaped teeth. Natural history and genotype-phenotype correlations in 72 individuals with SATB2-associated syndrome. Sib recurrence due to gonadal mosaicism was seen in 1 family. J. Hum. National Association for Down Syndrome | Facts About Down Syndrome While the OMIM database is open to the public, users seeking information about a personal . Mild dysmorphic features were also present, including narrow jaw with high palate and crowded teeth, short palpebral fissures, broad nose with broad nasal bridge, bulbous nasal tip and thick columella, short hands, mildly broad thumbs, and big toes. Summaries for Glass Syndrome. Signs and symptoms vary, but facial features may include thick eyebrows, wide-spaced eyes, and narrow eye openings. It occurs as a result of changes in DNA sequences, which affect the production of certain proteins. [PubMed: 17377962, related citations] Alterations to the SATB2 gene can result from a variety of different mechanisms that include contiguous deletions, intragenic deletions and duplications, translocations with secondary gene disruption, and point mutations. Genet. Clinical studies are medical research involving people as participants. Copyright 1996-2023 , Weizmann Institute of Science. [PubMed: 24363063] [PubMed: 19668335, images, related citations] A cross-species analysis of Satb2 expression suggests deep conservation across vertebrate lineages. Last medically reviewed on December 20, 2022, Intellectual disability is also known as cognitive disability. A chromosomal deletion map of human malformations. What is the life expectancy for people with Down syndrome? Hum. Disorders with similar clinical phenotypes reveal underlying genetic interaction: SATB2 acts as an activator of the UPF3B gene. He had no comprehensible speech and was totally dependent for all activities. Ectodermal anomalies included thin, atrophic skin, sparse, brittle, slowly growing hair, oligodontia with abnormally shaped teeth, normal sweating, and normal fingernails. 152A: 111-117, 2010. [Analysis of SATB2 gene mutation in a child with Glass syndrome]. In some cases, a child may undergo surgery to address the following physical symptoms of CdLS: A person may also undergo plastic surgery to help reduce excessive hair. The average life expectancy of a person with Down syndrome is now around 60 years of age [1]. Four other deletions also included the SATB2 gene, suggesting that haploinsufficiency for this gene is responsible for many of the features. In a Thai man with isolated cleft palate, gum hyperplasia, slight micrognathia, generalized osteoporosis, and mental retardation, Leoyklang et al. People with WSS may also have excessive hair on the elbows, arms, and back; difficulty feeding; behavior problems . "The SATB2-associated syndrome (SAS) is a recently described condition, characterized by developmental delay, intellectual disability with absent or limited language skills, palatal and dental abnormalities, behavioral problems, and unusual facial features. A., Swindlehurst, C. A., Aitken, D. A., McCrea, W., Boyd, E. provides scientific information on genetic diseases, including diagnosis, treatment, and genetic counseling. Rett syndrome: characteristics, treatment and life expectancy The clinical features in individuals with missense variants were indistinguishable from those with loss-of-function variants. The phenotype was variable, but common features included delayed psychomotor development, feeding difficulties early in life, and dysmorphic facies. [Full Text], Glass, I. Brain MRI showed nonspecific periventricular white matter abnormalities. Carrier females usually do not present symptoms, as the inactive X chromosome is the one with the genetic variation. [Full Text], Brewer, C. M., Leek, J. P., Green, A. J., Holloway, S., Bonthron, D. T., Markham, A. F., FitzPatrick, D. R. Characterization of the first intragenic SATB2 duplication in a girl with intellectual disability, nearly absent speech and suspected hypodontia. SATB2-associated syndrome: MedlinePlus Genetics 2022-06-30; glendale water and power pay bill Medical professionals associate X-linked CdLS with the genes SMC1A and HDAC8. Klinefelter syndrome, disorder of the human sex chromosomes that occurs in males. 2. The life expectancy of someone with Wernicke-Korsakoff syndrome tends to be shorter than the average individual. The main symptoms can be remembered using the acronym S.A.T.B.2 (S, Severe speech anomalies; A, Abnormalities of the palate; T, Teeth anomalies; B, Behavioral issues with or without Bone or Brain anomalies, and age of onset before 2 years of age). J. Hum. The median life expectancy for individuals with vascular EDS is around 48 years. MNT is the registered trade mark of Healthline Media. During the first year, signs and symptoms, such as slow growth and hair loss, begin to . Molecular studies identified a de novo heterozygous t(2;3)(q33.1;q26.33) translocation with the breakpoint on 2q33.1 within the PLCL1 (600597)-SATB2 gene desert. (2015) identified a de novo heterozygous intragenic duplication of the SATB2 gene (608148.0003), predicted to result in haploinsufficiency. Disruption of SATB2 or its long-range cis-regulation by SOX9 causes a syndromic form of Pierre Robin sequence. (2011) determined that the interstitial deletions ranged in size from 35 kb to 10.4 Mb. Brewer et al. Life expectancy and outlook of PURA syndrome: One of the most unfortunate aspects of discussing such a recently discovered disease is the lack of long-term research. Am. Both genes and chromosomes are types of genetic material that consist of DNA, but they have some key differences. Hum. 4.5 Mb microdeletion in chromosome band 2q33.1 associated with learning disability and cleft palate. In this article, we will discuss CdLS and outline its causes, risk factors, symptoms, diagnosis, and treatment. Some exhibit autistic behaviors, such as repetitive movements. [PubMed: 21295280] Find resources for patients and caregivers that address the challenges of living with a rare disease. The main symptoms can be remembered using the acronym S.A.T.B.2 (S, Severe speech anomalies; A, Abnormalities of the palate; T, Teeth anomalies; B, Behavioral issues with or without Bone or Brain anomalies, and age of onset before 2 years of age). Europ. (1999) reported 2 unrelated girls with cleft palate, facial dysmorphism, and mildly delayed development and learning difficulties associated with balanced, de novo cytogenetic rearrangements involving the same region of 2q. 12: 2491-2501, 2003. It is also important to help adults with WS maintain an active lifestyle, engaged with their peers . Leoyklang P, Suphapeetiporn K, Siriwan P, Desudchit T, Chaowanapanja P, Gahl WA, Shotelersuk V. Heterozygous nonsense mutation SATB2 associated with cleft palate, osteoporosis, and cognitive defects. Additional features may include seizures, joint laxity, arachnodactyly, and happy demeanor (summary by Glass et al., 1989; Urquhart et al., 2009; Rainger et al., 2014). An infant has GDD if they do not reach developmental milestones within the expected age range. Ghassibe-Sabbagh et al. 11 [Full Text], Van Buggenhout, G., Van Ravenswaaij-Arts, C., Maas, N. M. C., Thoelen, R., Vogels, A., Smeets, D., Salden, I., Matthijs, G., Fryns, J.-P., Vermeesch, J. R. After age 8, monitoring for signs of Wilms tumor may be done by periodic ultrasound and by watching for symptoms such as swelling of the abdomen or blood in the urine. KEGG DISEASE: Glass syndrome Unfortunately, there are no guarantees because Marfan syndrome and related disorders are so unpredictable. Mutat. "Life Expectancy" - What does this actually mean? Three patients had a specific behavioral phenotype with hyperactivity and motor restlessness, chaotic behavior, and happy personality intermixed with periods of aggression and anxiety, sleeping problems and self-mutilation. Two patients had seizures, and 3 had spasticity and contractures. Angelman syndrome also is associated with weak muscles from birth ( hypotonia ), which can make feeding difficult. It is caused by defective neuronal migration during the 12th to 24th weeks of gestation resulting in a lack of development of brain folds and grooves (). Will my child ever talk or communicate with me? Increased bone turnover, osteoporosis, progressive tibial bowing, fractures, and scoliosis in a patient with a final-exon SATB2 frameshift mutation. Some of these include: He had no seizures, and brain imaging was normal at age 3 years. There are different types of OI, and the problems it causes vary. Docker et al. (2011) resulted from SATB2 haploinsufficiency. Medical professionals may observe a growth restriction in a fetus during an ultrasound scan. - Some patients carry a deletion of minimum of 8.1 Mb on 2q32-q33. They can then use genetic testing to confirm their diagnosis. Glass syndrome, also known as SATB2-associated syndrome (SAS), is a recently described syndrome characterized by developmental delay/intellectual disability with absent or limited speech development, craniofacial abnormalities including palatal and dental abnormalities, behavioral problems, and dysmorphic features. Glass et al. 52: 454-457, 2009. Kaiser et al. Enhanced utility of family-centered diagnostic exome sequencing with inheritance model-based analysis: results from 500 unselected families with undiagnosed genetic conditions. What to know about intellectual disability, Coffin-Siris syndrome: Symptoms and outlook. Sadly, the average life expectancy for children with severe lissencephaly is only around 10 years. DO: 0060428; Balasubramanian, M., Smith, K., Basel-Vanagaite, L., Feingold, M. F., Brock, P., Gowans, G. C., Vasudevan, P. C., Cresswell, L., Taylor, E. J., Harris, C. J., Friedman, N., Moran, R., Feret, H., Zackai, E. H., Theisen, A., Rosenfeld, J. GARD does not currently have information about the cause of this condition. A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by moderate to severe developmental delay/intellectual disability with absent or limited speech development, various behavioral problems (including autistic features, hyperactivity, or aggressiveness), and craniofacial anomalies such as long face, high and prominent forehead, bulbous nose with low-hanging columella, thin vermillion of the upper lip, palatal (cleft palate, high-arched palate, and bifid uvula) and dental (abnormal upper incisors) abnormalities, and micrognathia. A., Shaffer, L. G. Delineation of 2q32q35 deletion phenotypes: two apparent "proximal" and "distal" syndromes. [Full Text], Urquhart, J., Black, G. C. M., Clayton-Smith, J. HGPS is an autosomal dominant genetic disorder. COVID-19 and Life Expectancy: What's in a Number? The SATB2 gene provides instructions for making a protein that is involved in the development of the brain and structures in the head and face. glass syndrome life expectancy. Genet. Mutat. Our Information Specialists are available to you by phone or by filling out our contact form. [Full Text: https://doi.org/10.1007/s00439-013-1345-9], Lieden, A., Kvarnung, M., Nilssson, D., Sahlin, E., Lundberg, E. S. NOTE: OMIM is intended for use primarily by physicians and other professionals concerned with genetic disorders, by genetics researchers, Disease Ontology: GDD often involves a significant delay in two or more developmental areas in children aged 5 years or younger. The SATB2 gene is located in chromosome 2q32 (the region designated as q32 on the long (""q"") arm of chromosome 2), and many of the features are similar to the ""2q33.1 microdeletion syndrome"". 52: 454-457, 2009. Severe combined immunodeficiency (SCID) is a group of rare disorders caused by mutations in different genes involved in the development and function of infection-fighting immune cells. Docker et al. In the US overall, the Influenza Pandemic of 1918 decreased life expectancy by over six years, from 54 to 47.6 years of age, three-fold our current loss. It can . Durham baby has 1 out of 100 recorded cases of a rare syndrome and a life expectancy less than four years. Toriello-Carey syndrome in a patient with a de novo balanced translocation [46,XY,t(2;14)(q33;q22)] interrupting SATB2. Expert curators She also had joint laxity, valgus foot deformity, broad toes and thumbs, brachydactyly, and contractures of the fourth and fifth fingers. A chromosomal deletion map of human malformations. Lieden et al. Heterozygous nonsense mutation SATB2 associated with cleft palate, osteoporosis, and cognitive defects. Ectodermal dysplasia-like syndrome with mental retardation due to contiguous gene deletion: further clinical and molecular delineation of del(2q32) syndrome. About WAGR - What is WAGR Syndrome Children with CdLS also commonly experience intellectual disability. Glass syndrome is characterized by intellectual disability of variable severity and dysmorphic facial features, including micrognathia, downslanting palpebral fissures, cleft palate, and crowded teeth. Lissencephaly (/ l s. n s f. l. i /, meaning 'smooth brain') is a set of rare brain disorders whereby the whole or parts of the surface of the brain appear smooth. These changes affect the proteins ability to perform their functions, leading to the symptoms of the condition. [PubMed: 25118029] Long-Term Health Risks & Life Expectancy of Glass Blowers The heat and bright light of the glory hole can cause long term eye injuries like "glass blower's cataract." . Hirsutism is when hair grows in unusual areas of a woman's face and body, such as the face or back, or at an unusual density and thickness. Bengani et al. Heart failure: Could a low sodium diet sometimes do more harm than good? berwick rangers new stadium. The average life expectancy for a child with progeria is about 13 years. Females typically have two X chromosomes, and males usually have only one. [Full Text: https://doi.org/10.1002/ajmg.a.36769], Rainger, J. K., Bhatia, S., Bengani, H., Gautier, P., Rainger, J., Pearson, M., Ansari, M., Crow, J., Mehendale, F., Palinkasova, B., Dixon, M. J., Thompson, P. J., Matarin, M., Sisodiya, S. M., Kleinjan, D. A., FitzPatrick, D. R. A locus for isolated cleft palate, located on human chromosome 2q32. In 2007, on average, persons with Down syndrome lived to be about 47 years old. The median age of death or life expectancy is typically below three years, and nearly 60 percent of deaths are due to infectious diseases. Additional features may include seizures, joint laxity, arachnodactyly, and happy demeanor (summary by Glass et al., 1989; Urquhart et al., 2009; Rainger et al., 2014). J. Hum. 164A: 3083-3087, 2014. Medical News Today has strict sourcing guidelines and draws only from peer-reviewed studies, academic research institutions, and medical journals and associations. The clinical significance of small copy number variants in neurodevelopmental disorders. Marfan Syndrome - Cleveland Clinic: Every Life Deserves World Class Care 2q32q33 microdeletion syndrome is a recently described syndrome characterized by a variable phenotype involving moderate to severe intellectual deficit, significant speech delay, persistent feeding difficulties, growth retardation and dysmorphic features. Osteogenesis Imperfecta | Johns Hopkins Medicine WEATHER ALERT Flood Warning. (2014) suggested that the phenotypes in the patients reported by Brewer et al. Genet. 4.5 Mb microdeletion in chromosome band 2q33.1 associated with learning disability and cleft palate. J. Hum. Glass et al. PLoS One 4: e6568, 2009. The MalaCards human disease database index: See all MalaCards categories (disease lists), Congenital malformations, deformations and chromosomal abnormalities, Chromosomal abnormalities, not elsewhere classified, Monosomies and deletions from the autosomes, not elsewhere classified, Cohesin complex - Cornelia de Lange syndrome, pulmonary venoocclusive disease 2, autosomal recessive, pulmonary venoocclusive disease 1, autosomal dominant, surfactant metabolism dysfunction, pulmonary, 2, corneal dystrophy, posterior polymorphous, 1, cerebellar ataxia, mental retardation, and dysequilibrium syndrome 1, interstitial pneumonitis, desquamative, familial, glassy cell variant cervical adenosquamous carcinoma, glassy cell carcinoma of the cervix uteri, respiratory bronchiolitis-interstitial lung disease syndrome, short stature, onychodysplasia, facial dysmorphism, and hypotrichosis, virus-associated trichodysplasia spinulosa, abnormal cerebral white matter morphology, Decreased viability after Maraba virus infection, Post-GPI Attachment To Proteins Inositol Deacylase 1, Zn Regulated GTPase Metalloprotein Activator 1B, HECT, C2 And WW Domain Containing E3 Ubiquitin Protein Ligase 2, Fibronectin Leucine Rich Transmembrane Protein 2, NC_000002.12:g.(199364049_199364051)_(199399060_199399062)dup, NM_001172509.2(SATB2):c.1131_1132del (p.Ser378fs), NM_001172509.2(SATB2):c.1627del (p.Arg543fs), NM_001172509.2(SATB2):c.1696G>A (p.Glu566Lys), NM_001172509.2(SATB2):c.1543G>A (p.Gly515Ser), NC_000002.12:g.(?_199348681)_(199433534_? Neurologic features included impairment of fine and gross motor skills, mild hemiparesis, and spasticity with hyperreflexia. The symptoms and their severity can vary from person to person. 63: 1153-1159, 1998. By oligonucleotide-based array CGH analysis in 7 patients with chromosome 2q33.1 deletion syndrome, Balasubramanian et al. She had cleft soft palate, feeding problems, febrile seizures, and delayed psychomotor development with poor speech. Bainbridge-Ropers Syndrome has not been studied well enough to know what the life expectancy is for someone with Bainbridge-Ropers Syndrome. Other features may include osteopenia and Rett-like problems. He had a slender body habitus with bowing of the tibiae and osteoporosis. Molec. science writers and biocurators. [Full Text], Bengani, H., Handley, M., Alvi, M., Ibitoye, R., Lees, M., Lynch, S. A., Lam, W., Fannemel, M., Nordgren, A., Malmgren, H., Kvarnung, M., Mehta, S., and 22 others. (2017) found that when mutant SATB2 protein is produced, the protein appears functionally inactive with a disrupted pattern of chromatin or matrix association. Alterations to the SATB2 gene can result from different mechanisms, such as contiguous deletions (missing pieces of the chromosome 2 that include the SATB2 gene and other genes that are close together), duplications (extra pieces of genetic material) translocations (rearrangements involving the gene), or point genetic changes (a genetic change that only affects a single nucleotide of the DNA).". A happy or overly friendly personality is also common among individuals with SATB2-associated syndrome. california fishing regulations 2022 The deletion resulted in hemizygosity for the HOXD gene (see, e.g., HOXD1; 142987) cluster and its regulatory elements, which may affect limb development. People with the early-onset (severe) form usually live for 10 - 20 years. Talk to a trusted doctor before choosing to participate in any clinical study. [PubMed: 16179223, related citations] Genet. Participants with a disease may participate to help others, but also to possibly receive the newest treatment and additional care from clinical study staff. If a person develops any complications relating to the condition, their prognosis will depend on the severity and management of those complications. The research also shows people . Infants with SCID appear healthy at birth but are highly susceptible to severe infections. A few orthopedic techniques may be effective for helping with limb problems. Dysmorphic facial features included hypotonic face with hypersalivation, hypertelorism, downslanting palpebral fissures, long eyelashes, upturned nose with broad tip, microretrognathia, long philtrum, low-set and posteriorly rotated ears, and crowded teeth. Best food forward: Are algae the future of sustainable nutrition? (2017) reported 19 different SATB2 mutations, of which 11 were loss-of-function and 8 missense (e.g., 608148.0004-608148.0006). Hum. Heterozygous nonsense mutation SATB2 associated with cleft palate, osteoporosis, and cognitive defects. Scientific Director, OMIM. 42 Other services that may be beneficial for infants with CdLS include: A parent or caregiver for an infant with CdLS may wish to consult a dietitian to address certain feeding difficulties. The condition also has several possible physical symptoms, including: distinct head . What is Angelman Syndrome - Angelman Syndrome Foundation Is Noonan Syndrome Life-Threatening? - emedicinehealth.com 48: 276-289, 2005. Clinical and molecular consequences of disease-associated de novo mutations in SATB2. accessible. [Full Text: https://doi.org/10.1093/hmg/ddt647], Rifai, L., Port-Lis, M., Tabet, A.-C., Bailleul-Forestier, I., Benzacken, B., Drunat, S., Kuzbari, S., Passemard, S., Verloes, A., Aboura, A. 152A: 111-117, 2010. He had no comprehensible speech and was totally dependent for all activities. [Full Text], Leoyklang, P., Suphapeetiporn, K., Srichomthong, C., Tongkobpetch, S., Fietze, S., Dorward, H., Cullinane, A. R., Gahl, W. A., Huizing, M., Shotelersuk, V. Treatment for CdLS often helps manage symptoms and support the person. Am. The lifespan of the individuals varies based on the extent of the disease. [Full Text], Rifai, L., Port-Lis, M., Tabet, A.-C., Bailleul-Forestier, I., Benzacken, B., Drunat, S., Kuzbari, S., Passemard, S., Verloes, A., Aboura, A. [PubMed: 19576302] [PubMed: 21295280, images, related citations] 48: 276-289, 2005. Genome sequencing identifies major causes of severe intellectual disability. Most people with Angelman syndrome live nearly as long as people without the condition, however, they are unable to live independently and will need life-long supportive care. The Rarest of the Rare - Front Line Genomics [Full Text: https://doi.org/10.1371/journal.pone.0006568], Urquhart, J., Black, G. C. M., Clayton-Smith, J. Individuals with mild Hunter syndrome also have a shortened lifespan, but they typically live into adulthood and their intelligence is not affected. [PubMed: 24363063, images, related citations] Early referral for developmental support . The cause of death is usually aspiration (inhaling) of food or fluids, respiratory disease, or severe seizures (status epilepticus). Disease. Anyone from the U.S. can register with this free program funded by NIH. If a person must receive only one altered gene from a parent for a condition to occur, a medical professional will describe the condition as autosomal dominant. [Full Text: https://doi.org/10.1086/302041], Brewer, C. M., Leek, J. P., Green, A. J., Holloway, S., Bonthron, D. T., Markham, A. F., FitzPatrick, D. R. What is the life expectancy of a child with Angelman syndrome? The natural history of PTHS and morbidity in adult age remains to be investigated; the life expectancy is unknown. These findings were consistent with a diagnosis of ectodermal dysplasia. Even after exclusion of deaths from congenital heart disease, the mortality rates remain excessive, particularly in women with 45,X monosomy. 3. Rainger et al. "It kind of . MedlinePlus Genetics: [PubMed: 12915443, related citations] scratch on rental car budget; piezoelectric materials ppt; cold pattern warzone blueprint; trabajo de limpieza en queens; i have a signed title but no bill of sale; glass syndrome life expectancy. In some people, CdLS is autosomal dominant. In practice, however, things are often more complicated: Splicing in action: assessing disease causing sequence changes. About ASXL3/Bainbridge-Ropers Syndrome (BRS) - ASXL Rare Research 132: 1383-1393, 2013. Medical professionals may also recommend regular hearing and vision screenings for all infants with neurodevelopmental conditions. Osteogenesis imperfecta - Wikipedia She had significant intellectual disability and required constant supervision. The life expectancy for type I Cockayne syndrome is 10 to 20 years, whereas those with type II Cockayne syndrome may not survive after childhood (typically by the of age six to seven years). Hum. )dup, establishment of mitotic sister chromatid cohesion. Europ. Europ. CdLS syndrome: Life expectancy, symptoms, and causes )del, NM_001172509.2(SATB2):c.588_595del (p.Leu197fs), NM_001172509.2(SATB2):c.1329_1347dup (p.Ser450fs), NM_001172509.2(SATB2):c.1592dup (p.Asn531fs), NM_001172509.2(SATB2):c.1196G>A (p.Arg399His), NM_001172509.2(SATB2):c.562C>T (p.Gln188Ter), NM_001172509.2(SATB2):c.282_289dup (p.Val97fs), NM_001172509.2(SATB2):c.343C>T (p.Gln115Ter), NM_001172509.2(SATB2):c.2002_2021del (p.Tyr668fs), NM_001172509.2(SATB2):c.1187A>G (p.Glu396Gly), NM_001172509.2(SATB2):c.1166G>T (p.Arg389Leu), NM_001172509.2(SATB2):c.1174G>A (p.Gly392Arg), NM_001172509.2(SATB2):c.1495A>T (p.Lys499Ter), NM_001172509.2(SATB2):c.1285C>T (p.Arg429Ter), GRCh37/hg19 2q32.1-34(chr2:185697659-213002074), NM_001172509.2(SATB2):c.715C>T (p.Arg239Ter), NM_001172509.2(SATB2):c.1165C>T (p.Arg389Cys), NM_001172509.2(SATB2):c.1375C>T (p.Arg459Ter), NM_001172509.2(SATB2):c.847C>T (p.Arg283Ter), NM_001172509.2(SATB2):c.1174G>C (p.Gly392Arg), NM_001172509.2(SATB2):c.1218_1221del (p.Ala407fs), NM_001172509.2(SATB2):c.75del (p.Pro26fs), NC_000002.12:g.(?_199380344)_(199433534_?
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