GM06907

GM06907 LCL from B-Lymphocyte

Description:

FRAGILE X MENTAL RETARDATION SYNDROME
FMR1 GENE; FMR1

Affected:

No

Sex:

Female

Age:

27 YR (At Sampling)

Overview

Repository

NIGMS Human Genetic Cell Repository

Subcollection

Heritable Diseases
Chromosome Abnormalities

Class

Disorders with Trinucleotide Expansions

Class

X Chromosome Markers

Biopsy Source

Peripheral vein

Cell Type

B-Lymphocyte

Tissue Type

Blood

Transformant

Epstein-Barr Virus

Sample Source

LCL from B-Lymphocyte

Race

White

Family Member

Relation to Proband

maternal cousin

Confirmation

Molecular characterization after cell line submission to CCR

Species

Homo sapiens

Common Name

Human

Remarks

Clinically normal; affected nephew and uncle; sister of GM06903A; daughter of GM06904A and GM06906A; negative for fra(X) in PBL; carrier female by Southern and PCR analyses; CGG repeats are 85 and 29

Characterizations

IDENTIFICATION OF SPECIES OF ORIGIN

Species of Origin Confirmed by Nucleoside Phosphorylase, Glucose-6-Phosphate Dehydrogenase, and Lactate Dehydrogenase 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.

Phenotypic Data

Remarks

Clinically normal; affected nephew and uncle; sister of GM06903A; daughter of GM06904A and GM06906A; negative for fra(X) in PBL; carrier female by Southern and PCR analyses; CGG repeats are 85 and 29

Publications

Caballero M, Ge T, Rebelo AR, Seo S, Kim S, Brooks K, Zuccaro M, Kanagaraj R, Vershkov D, Kim D, Smogorzewska A, Smolka M, Benvenisty N, West SC, Egli D, Mace EM, Koren A, Comprehensive analysis of DNA replication timing across 184 cell lines suggests a role for MCM10 in replication timing regulation Human molecular genetics: 2021

PubMed ID: 35394024

Lian M, Zhao M, Phang GP, Soong YT, Yoon CS, Lee CG, Law HY, Chong SS, Rapid Molecular Screen of Spinocerebellar Ataxia Types 1, 2, and 3 by Triplet-Primed PCR and Melting Curve Analysis The Journal of molecular diagnostics : JMD23:565-576 2020

PubMed ID: 33618058

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

Zhou Y, Law HY, Boehm CD, Yoon CS, Cutting GR, Ng IS, Chong SS, Robust fragile X (CGG)n genotype classification using a methylation specific triple PCR assay. J Med Genet41(4):e45 2004

PubMed ID: 15060121

Howard-Peebles PN, Friedman JM, Unaffected carrier males in families with fragile X syndrome. Am J Hum Genet37:956-64 1985

PubMed ID: 3863482