Description:
PRADER-WILLI SYNDROME; PWS
SMALL NUCLEAR RIBONUCLEOPROTEIN POLYPEPTIDE N; SNRPN
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Repository
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NIGMS Human Genetic Cell Repository
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| Subcollection |
Heritable Diseases
dbGaP |
| Class |
Other Disorders of Known Biochemistry |
| Quantity |
25 µg |
| Quantitation Method |
Please see our FAQ |
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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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DNA from LCL
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Race
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White
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Family Member
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2
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Relation to Proband
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father
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Confirmation
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Molecular characterization before cell line submission to CCR
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ISCN
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arr[hg18] 15q11.2(22716305-22756297)x1
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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 Nucleoside Phosphorylase, Glucose-6-Phosphate Dehydrogenase, and Lactate Dehydrogenase Isoenzyme Electrophoresis |
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| GENE MAPPING & DOSAGE STUDIES - Y CHROMOSOME |
PCR analysis of DNA from this cell culture gave a positive result with a primer for Yq11, DYS227. |
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| Gene |
SNRPN |
| Chromosomal Location |
15q12 |
| Allelic Variant 1 |
; PRADER-WILLI SYNDROME |
| Identified Mutation |
DEL MATERNAL EXON ALPHA |
| Remarks |
Asymptomatic; 2 affected children; has maternal deletion of exon alpha of SNRPN which occurs within a differentially methylated CpG island |
| Andrew M. Gross PhD, Subramanian S. Ajay PhD, Vani Rajan MS, Carolyn Brown CGC, Krista Bluske PhD, Nicole J. Burns MS, Aditi Chawla PhD, Alison J. Coffey PhD, Alka Malhotra PhD, Alicia Scocchia MS CGC, Erin Thorpe MS CGC, Natasa Dzidic MS, Karine Hovanes PhD FACMG, Trilochan Sahoo MD FACMG, Egor Dolzhenko PhD, Bryan Lajoie PhD, Amirah Khouzam MS CGC, Shimul Chowdhury PhD FACMG, John Belmont MD PhD, Eric Roller PhD, Sergii Ivakhno PhD, Stephen Tanner PhD, Julia McEachern PA MHS, Tina Hambuch PhD FACMG, Michael Eberle PhD, R. Tanner Hagelstrom PhD FACMG, David R. Bentley PhD, Denise L. Perry MS CGC & Ryan J. Taft PhD, Copy-number variants in clinical genome sequencing: deployment and interpretation for rare and undiagnosed disease Genetics in Medicine: 2018 |
| PubMed ID: 30293986 |
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| Tang Z, Berlin DS, Toji L, Toruner GA, Beiswanger C, Kulkarni S, Martin CL, Emanuel BS, Christman M, Gerry NP, A dynamic database of microarray-characterized cell lines with various cytogenetic and genomic backgrounds G3 (Bethesda, Md)3:1143-9 2013 |
| PubMed ID: 23665875 |
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| Sutcliffe JS, Nakao M, Christian S, Orstavik KH, Tommerup N, Ledbetter DH, Beaudet AL, Deletions of a differentially methylated CpG island at the SNRPN gene define a putative imprinting control region [see comments] Nat Genet8:52-8 1994 |
| PubMed ID: 7987392 |
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| Orstavik KH, Tangsrud SE, Kiil R, Hansteen IL, Steen-Johnsen J, Cassidy SB, Martony A, Anvret M, Tommerup N, Brondum-Nielsen K, Prader-Willi syndrome in a brother and sister without cytogenetic or detectable molecular genetic abnormality at chromosome 15q11q13. Am J Med Genet44:534-8 1992 |
| PubMed ID: 1442901 |
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