Description:
FRAGILE X MENTAL RETARDATION SYNDROME
FMR1 GENE; FMR1
|
Repository
|
NIGMS Human Genetic Cell Repository
|
| Subcollection |
Heritable Diseases
Chromosome Abnormalities |
| Class |
Disorders with Trinucleotide Expansions |
| Class |
X Chromosome Markers |
|
Cell Type
|
Fibroblast
|
|
Transformant
|
Untransformed
|
|
Race
|
White
|
|
Family Member
|
1
|
|
Relation to Proband
|
proband
|
|
Confirmation
|
Molecular characterization after cell line submission to CCR
|
|
Species
|
Homo sapiens
|
|
Common Name
|
Human
|
|
Remarks
|
|
| PDL at Freeze |
5.38 |
| Passage Frozen |
7 |
| |
| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by Nucleoside Phosphorylase Isoenzyme Electrophoresis |
| |
| Gene |
FMR1 |
| Chromosomal Location |
Xq27.3 |
| Allelic Variant 1 |
309550.0004; FRAGILE X MENTAL RETARDATION SYNDROME |
| Identified Mutation |
(CGG)n EXPANSION; The usual cause of the fragile X syndrome is an expanded (CGG)n repeat in the 5-prime noncoding region of the FMR1 gene. |
| Remarks |
Mental retardation and macro-orchidism; 46,fra(X)(q2800),Y in PBL; similarly affected brother and cousins; affected male by Southern analysis |
| Rafehi H, Szmulewicz DJ, Bennett MF, Sobreira NLM, Pope K, Smith KR, Gillies G, Diakumis P, Dolzhenko E, Eberle MA, Barcina MG, Breen DP, Chancellor AM, Cremer PD, Delatycki MB, Fogel BL, Hackett A, Halmagyi GM, Kapetanovic S, Lang A, Mossman S, Mu W, Patrikios P, Perlman SL, Rosemergy I, Storey E, Watson SRD, Wilson MA, Zee DS, Valle D, Amor DJ, Bahlo M, Lockhart PJ, Bioinformatics-Based Identification of Expanded Repeats: A Non-reference Intronic Pentamer Expansion in RFC1 Causes CANVAS American journal of human genetics105:151-165 2019 |
| PubMed ID: 31230722 |
| |
| Tankard RM, Bennett MF, Degorski P, Delatycki MB, Lockhart PJ, Bahlo M, Detecting Expansions of Tandem Repeats in Cohorts Sequenced with Short-Read Sequencing Data American journal of human genetics105:151-165 2017 |
| PubMed ID: 30503517 |
| |
| Howard-Peebles PN, Stoddard GR, Familial X-linked mental retardation with a marker X chromosome and its relationship to macro-orchidism. Clin Genet17:125-8 1980 |
| PubMed ID: 6928810 |
| |
| Howard-Peebles PN, Stoddard GR, Mims MG, Familial X-linked mental retardation, verbal disability, and marker X chromosomes. Am J Hum Genet31:214-22 1979 |
| PubMed ID: 453204 |
| Passage Frozen |
7 |
| Split Ratio |
1:2 |
| Temperature |
37 C |
| Percent CO2 |
5% |
| Percent O2 |
AMBIENT |
| Medium |
Eagle's Minimum Essential Medium with Earle's salts and non-essential amino acids with 2mM L-glutamine or equivalent |
| Serum |
15% fetal bovine serum Not inactivated |
| Supplement |
- |
|
|