GM16207

GM16207 LCL from B-Lymphocyte

Description:

FRIEDREICH ATAXIA 1; FRDA
FRATAXIN; FXN

Affected:

Yes

Sex:

Female

Age:

42 YR (At Sampling)

Overview

Repository

NIGMS Human Genetic Cell Repository

Subcollection

Heritable Diseases

Class

Disorders of the Nervous System

Class

Disorders with Trinucleotide Expansions

Biopsy Source

Peripheral vein

Cell Type

B-Lymphocyte

Tissue Type

Blood

Transformant

Epstein-Barr Virus

Sample Source

LCL from B-Lymphocyte

Race

White

Country of Origin

USA

Relation to Proband

proband

Confirmation

Clinical summary/Case history

Species

Homo sapiens

Common Name

Human

Remarks

Clinically affected; age of onset 23; ataxia; areflexia; weakness; sensory loss; dysarthria; homozygous for the GAA expansion in the frataxin gene with alleles of approximately 280 and 830 repeats.

Characterizations

IDENTIFICATION OF SPECIES OF ORIGIN

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

Gene

FXN

Chromosomal Location

9q13-q21.1

Allelic Variant 1

606829.0001; FRIEDREICH ATAXIA

Identified Mutation

(GAA)n EXPANSION; GAA triplet repeat expansions between 200 and 900 copies in the first intron of the frataxin gene occurred in 71 out of 74 FRDA patients studied by Campuzano et al. [Science 271: 1423-1427 (1996)]. In unaffected individuals the triplet expansion numbered between 7 and 20 units.

Gene

FXN

Chromosomal Location

9q13-q21.1

Allelic Variant 2

606829.0001; FRIEDREICH ATAXIA

Identified Mutation

Phenotypic Data

Remarks

Clinically affected; age of onset 23; ataxia; areflexia; weakness; sensory loss; dysarthria; homozygous for the GAA expansion in the frataxin gene with alleles of approximately 280 and 830 repeats.

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

Jama M, Margraf RL, Yu P, Reading NS, Bayrak-Toydemir P, A Comprehensive Triple-Repeat Primed PCR and a Long-Range PCR Agarose-Based Assay for Improved Genotyping of Guanine-Adenine-Adenine Repeats in Friedreich Ataxia The Journal of molecular diagnostics : JMD24:915-923 2021

PubMed ID: 35595154

Rodden LN, Gilliam KM, Lam C, Rojsajjakul T, Mesaros C, Dionisi C, Pook M, Pandolfo M, Lynch DR, Blair IA, Bidichandani SI, DNA methylation in Friedreich ataxia silences expression of frataxin isoform E Scientific reports12:5031 2021

PubMed ID: 35322126

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

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