GM06895

GM06895 LCL from B-Lymphocyte

Description:

FRAGILE X MENTAL RETARDATION SYNDROME
APPARENTLY HEALTHY INDIVIDUAL
FMR1 GENE; FMR1

Affected:

No

Sex:

Male

Age:

55 YR (At Sampling)

Overview

Repository

NIGMS Human Genetic Cell Repository

Subcollection

Heritable Diseases

Class

Disorders with Trinucleotide Expansions

Class

X Chromosome Markers

Alternate IDs

GM17269 [FRAGILE X MENTAL RETARDATION SYNDROME]

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

father

Confirmation

Molecular characterization after cell line submission to CCR

Species

Homo sapiens

Common Name

Human

Remarks

Clinically normal; 1 affected son and 2 grandsons; 46,XY in peripheral blood lymphocytes; normal male by Southern and PCR analyses; CGG repeat is 23

Characterizations

IDENTIFICATION OF SPECIES OF ORIGIN

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

GENE MAPPING & DOSAGE STUDIES - Y CHROMOSOME

PCR analysis of DNA from this cell culture gave a positive result with a primer for Yq11, DYS227.

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; 1 affected son and 2 grandsons; 46,XY in peripheral blood lymphocytes; normal male by Southern and PCR analyses; CGG repeat is 23

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

Dolskiy AA, Yarushkin AA, Grishchenko IV, Lemskaya NA, Pindyurin AV, Boldyreva LV, Pustylnyak VO, Yudkin DV, miRNA expression and interaction with the 3'UTR of FMR1 in FRAXopathy pathogenesis Non-coding RNA research6:1-7 2020

PubMed ID: 33426406

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

Grasso M, Boon EM, Filipovic-Sadic S, van Bunderen PA, Gennaro E, Cao R, Latham GJ, Hadd AG, Coviello DA., A Novel Methylation PCR that Offers Standardized Determination of FMR1 Methylation and CGG Repeat Length without Southern Blot Analysis. J Mol Diagn.13:pii: S1525-1578 2013

PubMed ID: 24177047

Greene E, Mahishi L, Entezam A, Kumari D, Usdin K, Repeat-induced epigenetic changes in intron 1 of the frataxin gene and its consequences in Friedreich ataxia Nucleic acids research35:3383-90 2007

PubMed ID: 17478498

Yu WD, Wenger SL, Steele MW, X chromosome imprinting in fragile X syndrome. Hum Genet85:590-4 1990

PubMed ID: 2227950

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

PubMed ID: 3863482