GM07947

GM07947 LCL from B-Lymphocyte

Description:

MUSCULAR DYSTROPHY, DUCHENNE TYPE; DMD
CHRONIC GRANULOMATOUS DISEASE (XK-RELATED; CGD) - 306400 OR 314850
DYSTROPHIN; DMD
CHROMOSOME DELETION

Affected:

Yes

Sex:

Male

Age:

14 YR (At Sampling)

Overview

Repository

NIGMS Human Genetic Cell Repository

Subcollection

Heritable Diseases
Chromosome Abnormalities
Muscular Dystrophies
dbGaP

Class

Congenital Muscle Diseases

Class

Disorders of Connective Tissue, Muscle, and Bone

Biopsy Source

Peripheral vein

Cell Type

B-Lymphocyte

Tissue Type

Blood

Transformant

Epstein-Barr Virus

Sample Source

LCL from B-Lymphocyte

Race

White

Relation to Proband

proband

Confirmation

Clinical summary/Case history

ISCN

46,Y,del(X)(pter>p21.3::p21.1>qter)

Species

Homo sapiens

Common Name

Human

Remarks

Clinically affected with DMD, as well as chronic granulomatous disease, retinitis pigmentosa, and mental retardation; hepatosplenomegaly and lymphadenopathy noted at six months; recurrent pyoderma; respiratory infections; febrile episodes; recurrent suppurative lymphadenitis, osteomyelitis, and pneumonia; McLeod red cell phenotype; diffuse atrophy of retinal pigment epithelium and intraretinal pigment clumpng at age 2; retinal vessel attenuation; visual acuity 20/100 OD and 20/40+ OS; atrophy of macula with cystoid macular edema and drusen of the disc; severely constricted visual fields; ERG showed no detectable rod or cone responses; idiopathic intestinal pseudoobstruction; stood with support at age 2; walked short distances at 3 1/2 years; wide-based gait; weakness of proximal and distal muscles of upper and lower extremities; wheelchair bound at age 12; pseudohypertrophy of calf muscles; EMG consistent with a myopathy; muscle biopsy showed diffuse loss of muscle fibers and replacement by fibrous and adipose tissue and marked variation in fiber size on cross sections; elevated CPK of 1,039; 46, Y,del(X)(Xpter>Xp21.3::Xp21.1>Xqter) by molecular analysis; dystrophin gene deletion from outside 5' end through at least exon 19, exon 44 is not deleted.

Characterizations

IDENTIFICATION OF SPECIES OF ORIGIN

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

GENE MAPPING & DOSAGE STUDIES - Y CHROMOSOME

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

creatine kinase

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

Gene

DMD

Chromosomal Location

Xp21.2

Allelic Variant 1

; DUCHENNE MUSCULAR DYSTROPHY

Identified Mutation

5'END-EX19DEL

Cytogenetics

Chromosome X: DELETION Aneuploid Segment (-)Xp21>Xp21

Phenotypic Data

Remarks

Publications

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

Ng D, Thakker N, Corcoran CM, Donnai D, Perveen R, Schneider A, Hadley DW, Tifft C, Zhang L, Wilkie AO, van der Smagt JJ, Gorlin RJ, Burgess SM, Bardwell VJ, Black GC, Biesecker LG, Oculofaciocardiodental and Lenz microphthalmia syndromes result from distinct classes of mutations in BCOR. Nat Genet36(4):411-6 2004

PubMed ID: 15004558

Oaks MK, Hanson JP Jr, O'Malley DP, Molecular cytogenetic mapping of the human melanoma antigen (MAGE) gene family to chromosome region Xq27-qter: implications for MAGE immunotherapy. Cancer Res54:1627-9 1994

PubMed ID: 8137270

Musarella MA, Anson-Cartwright CL, McDowell C, Burghes AH, Coulson SE, Worton RG, Rommens JM, Physical mapping at a potential X-linked retinitis pigmentosa locus (RP3) by pulsed-field gel electrophoresis. Genomics11:263-72 1991

PubMed ID: 1769646

Wilcox DE, Cooke A, Colgan J, Boyd E, Aitken DA, Sinclair L, Glasgow L, Stephenson JB, Ferguson-Smith MA, Duchenne muscular dystrophy due to familial Xp21 deletion detectable by DNA analysis and flow cytometry. Hum Genet73:175-80 1986

PubMed ID: 3721503

de Martinville B, Kunkel LM, Bruns G, Morle F, Koenig M, Mandel JL, Horwich A, Latt SA, Gusella JF, Housman D, et al, Localization of DNA sequences in region Xp21 of the human X chromosome: search for molecular markers close to the Duchenne muscular dystrophy locus. Am J Hum Genet37:235-49 1985

PubMed ID: 2984924

Francke U, Ochs HD, de Martinville B, Giacalone J, Lindgren V, Disteche C, Pagon RA, Hofker MH, van Ommen GJ, Pearson PL, et al, Minor Xp21 chromosome deletion in a male associated with expression of Duchenne muscular dystrophy, chronic granulomatous disease, retinitis pigmentosa, and McLeod syndrome. Am J Hum Genet37:250-67 1985

PubMed ID: 4039107