GM04100

GM04100 LCL from B-Lymphocyte

Description:

MUSCULAR DYSTROPHY, DUCHENNE TYPE; DMD
DYSTROPHIN; DMD

Affected:

Yes

Sex:

Male

Age:

10 YR (At Sampling)

Overview

Repository

NIGMS Human Genetic Cell Repository

Subcollection

Heritable Diseases
Muscular Dystrophies
GeT-RM Samples
dbGaP

Class

Congenital Muscle Diseases

Biopsy Source

Peripheral vein

Cell Type

B-Lymphocyte

Tissue Type

Blood

Transformant

Epstein-Barr Virus

Sample Source

LCL from B-Lymphocyte

Race

Other

Family Member

Relation to Proband

proband

Confirmation

Clinical summary/Case history

Species

Homo sapiens

Common Name

Human

Remarks

Clinically affected with Duchenne muscular dystrophy; diagnosed at age 6; calf hypertrophy; progressive muscle weakness; began walking at age one but weakness noticed by 2-3 years of age; by age 6 there was lumbar lordosis, waddling gait, shoulder girdle weakness, positive Gower's maneuver, active and symmetric deep tendon reflexes; by age 9 there was proximal muscle weakness that showed marked deterioration since previous evaluations; by age 10 there was toe walking, decreased deep tendon reflexes, proximal weakness of shoulder and hip girdles, atrophy around shoulder girdle muscles with winging of the scapula; onset of speech was delayed, cognitive evaluation revealed learning disability in the areas of language and reading, non-reader at age 10; 3 maternal uncles died from progressive weakness between ages 17-23; son of GM04099; CPK over 11,000; muscle biopsy confirmed Duchenne muscular dystrophy; electromyogram showed myopathy; donor subject has a deletion of exons 49-52 in the dystrophin gene as determined by multiplex PCR

Characterizations

creatine kinase

According to the submitter, biochemical test results for this subject showed increased enzyme activity. EC Number: 2.7.3.2

IDENTIFICATION OF SPECIES OF ORIGIN

Species of Origin confirmed by LINE assay

Gene

DMD

Chromosomal Location

Xp21.2

Allelic Variant 1

; DUCHENNE MUSCULAR DYSTROPHY

Identified Mutation

EX49-52DEL

Phenotypic Data

Remarks

Publications

Hajian R, Balderston S, Tran T, deBoer T, Etienne J, Sandhu M, Wauford NA, Chung JY, Nokes J, Athaiya M, Paredes J, Peytavi R, Goldsmith B, Murthy N, Conboy IM, Aran K, Detection of unamplified target genes via CRISPR-Cas9 immobilized on a graphene field-effect transistor Nature biomedical engineering3:427-437 2018

PubMed ID: 31097816

Kozareva V, Stroff C, Silver M, Freidin JF, Delaney NF, Clinical analysis of germline copy number variation in DMD using a non-conjugate hierarchical Bayesian model BMC medical genomics11:91 2018

PubMed ID: 30342520

Tang Z, Berlin DS, Toji L, Toruner GA, Beiswanger C, Kulkarni S, Martin CL, Emanuel BS, Christman M, Gerry NP, A dynamic database of microarray-characterized cell lines with various cytogenetic and genomic backgrounds G3 (Bethesda, Md)3:1143-9 2013

PubMed ID: 23665875

Kalman L, Leonard J, Gerry N, Tarleton J, Bridges C, Gastier-Foster JM, Pyatt RE, Stonerock E, Johnson MA, Richards CS, Schrijver I, Ma T, Miller VR, Adadevoh Y, Furlong P, Beiswanger C, Toji L, Quality assurance for duchenne and becker muscular dystrophy genetic testing development of a genomic DNA reference material panel The Journal of molecular diagnostics : JMD13:167-74 2010

PubMed ID: 21354051

Robbins JH, Scudiero DA, Otsuka F, Tarone RE, Brumback RA, Wirtschafter JD, Polinsky RJ, Barrett SF, Moshell AN, Scarpinato RG, et al, Hypersensitivity to DNA-damaging agents in cultured cells from patients with Usher's syndrome and Duchenne muscular dystrophy. J Neurol Neurosurg Psychiatry47(4):391-8 1984

PubMed ID: 6726265

Tarone RE, Otsuka F, Robbins JH, A sensitive assay for detecting hypersensitivity to ionizing radiation in lymphoblastoid lines from patients with Duchenne muscular dystrophy and primary neuronal degenerations. J Neurol Sci65(3):367-81 1984

PubMed ID: 6333487