GM19977
LCL from B-Lymphocyte
Description:
SOTOS SYNDROME
NUCLEAR RECEPTOR-BINDING Su-var, ENHANCER OF ZESTE, AND TRITHORAX DOMAIN PROTEIN 1; NSD1
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Repository
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NIGMS Human Genetic Cell Repository
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| Subcollection |
Heritable Diseases |
| Class |
Disorders of the Nervous System |
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Biopsy Source
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Peripheral vein
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Cell Type
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B-Lymphocyte
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Tissue Type
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Blood
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Transformant
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Epstein-Barr Virus
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Sample Source
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LCL from B-Lymphocyte
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Race
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White
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Family Member
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1
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Relation to Proband
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proband
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Confirmation
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Clinical summary/Case history
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Species
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Homo sapiens
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Common Name
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Human
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Remarks
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| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin confirmed by LINE assay |
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| Gene |
NSD1 |
| Chromosomal Location |
5q35 |
| Allelic Variant 1 |
606681.0008; WEAVER SYNDROME |
| Identified Mutation |
1-BP INS, 6450C |
| Remarks |
Clinically affected; born at term; birthweight 3.5 kg (50th centile); jaundice and hypotonia in neonatal period; presented with moderate-severe intellectual impairment, overgrowth, and Sotos facial gestalt; at 20 months height was 90th centile, weight was >99.6th centile, head circumference was 9th centile; reflex anoxic seizures; ankle contractures; no family history of Sotos syndrome or intellectual impairment; unaffected mother (GM19975) has no NSD1 mutations; normal bone age; 46,XY; negative Fragile X testing; donor subject found to carry an insertion, 6450-1insC, in exon 22 of the NSD1 gene causing a frameshift mutation (K2151fsX2165). |
| Xia Y, Katz M, Chandramohan D, Bechor E, Podgursky B, Hoxie M, Zhang Q, Chertman W, Kang J, Blue E, Chen J, Schleede J, Slotnick NR, Du X, Boostanfar R, Urcia E, Behr B, Cohen J, Siddiqui N, The first clinical validation of whole-genome screening on standard trophectoderm biopsies of preimplantation embryos F&S reports5:63-71 2023 |
| PubMed ID: 38524212 |
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| Douglas J, Hanks S, Temple IK, Davies S, Murray A, Upadhyaya M, Tomkins S, Hughes HE, Cole TR, Rahman N, NSD1 mutations are the major cause of Sotos syndrome and occur in some cases of Weaver syndrome but are rare in other overgrowth phenotypes. Am J Hum Genet72(1):132-43 2003 |
| PubMed ID: 12464997 |
| Split Ratio |
1:3 |
| Temperature |
37 C |
| Percent CO2 |
5% |
| Medium |
Roswell Park Memorial Institute Medium 1640 with 2mM L-glutamine or equivalent |
| Serum |
15% fetal bovine serum Not Inactivated |
| Substrate |
None specified |
| Subcultivation Method |
dilution - add fresh medium |
| Supplement |
- |
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