GM21542

GM21542 LCL from B-Lymphocyte

Description:

FRIEDREICH ATAXIA 1; FRDA
FRATAXIN; FXN

Affected:

Yes

Sex:

Female

Age:

20 YR (At Sampling)

Overview

Repository

NIGMS Human Genetic Cell Repository

Subcollection

Heritable Diseases

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

Relation to Proband

proband

Confirmation

Molecular characterization before cell line submission to CCR

Species

Homo sapiens

Common Name

Human

Remarks

Clinically affected; donor subject has one allele with a point mutation in the FXN (frataxin) gene: Gly130Val (G130V); the other allele is as yet unstudied

Characterizations

IDENTIFICATION OF SPECIES OF ORIGIN

Species of Origin confirmed by LINE assay

Gene

FXN

Chromosomal Location

9q13-q21.1

Allelic Variant 1

606829.0005; FRIEDREICH ATAXIA

Identified Mutation

GLY130VAL; Bidichandani et al. (1997) found compound heterozygosity for the GAA triplet-repeat expansion (229300.0001) and a novel missense mutation, G130V, in 3 sibs with variant Friedreich ataxia. Three of 6 sibs were affected: a male age 42, a male age 39, and a female age 35. Onset of disease was in the early teens, starting with weakness in the lower limbs and followed by gradual progression over the ensuing 20 years. Two brothers were still ambulatory, using either a walking stick or walker, and led fully productive working lives. Their upper limbs were affected to a lesser extent than their legs and lacked several key signs. They had sensory loss over the distal limbs, mild-to-moderate motor weakness, impaired position and vibratory sense, and hypo- or areflexia. Bilateral Babinski sign was also present in 1 brother. There was no atrophy, and muscle tone was normal. Notably, there was no dysarthria, and coordination was either very mildly affected or normal. Nerve conduction studies revealed slowing of motor-conduction velocities and absent sensory-evoked responses. Magnetic resonance imaging (MRI) revealed cervical spinal cord atrophy. No cardiac abnormalities were detected. Blood glucose levels were borderline elevated, and mild glucose intolerance was revealed in a 5-hour glucose-tolerance test. The sister was somewhat more physically incapacitated than her older 2 brothers.

Phenotypic Data

Remarks

Clinically affected; donor subject has one allele with a point mutation in the FXN (frataxin) gene: Gly130Val (G130V); the other allele is as yet unstudied

Publications

Doni D, Rigoni G, Palumbo E, Baschiera E, Peruzzo R, De Rosa E, Caicci F, Passerini L, Bettio D, Russo A, Szabò I, Soriano ME, Salviati L, Costantini P, The displacement of frataxin from the mitochondrial cristae correlates with abnormal respiratory supercomplexes formation and bioenergetic defects in cells of Friedreich ataxia patients FASEB journal : official publication of the Federation of American Societies for Experimental Biology35:e21362 2020

PubMed ID: 33629768