Description:
MUSCULAR DYSTROPHY, DUCHENNE TYPE; DMD
CHRONIC GRANULOMATOUS DISEASE (XK-RELATED; CGD) - 306400 OR 314850
DYSTROPHIN; DMD
|
Repository
|
NIGMS Human Genetic Cell Repository
|
| Subcollection |
Heritable Diseases
Muscular Dystrophies
GeT-RM Samples
dbGaP |
| Class |
Congenital Muscle Diseases |
| Class |
Disorders of Connective Tissue, Muscle, and Bone |
| Quantity |
25 µg |
| Quantitation Method |
Please see our FAQ |
|
Biopsy Source
|
Peripheral vein
|
|
Cell Type
|
B-Lymphocyte
|
|
Tissue Type
|
Blood
|
|
Transformant
|
Epstein-Barr Virus
|
|
Sample Source
|
DNA from LCL
|
|
Race
|
White
|
|
Ethnicity
|
JEWISH
|
|
Family Member
|
1
|
|
Relation to Proband
|
proband
|
|
Confirmation
|
Clinical summary/Case history
|
|
ISCN
|
46,Y,del(X)(p21.1>p11.4)
|
|
Species
|
Homo sapiens
|
|
Common Name
|
Human
|
|
Remarks
|
|
| 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 |
EX1-18DEL (DEL 5 PRIME END-18) |
| Cytogenetics |
Chromosome X: DELETION Aneuploid Segment (-)Xp21.1>Xp11.4 |
| Remarks |
Classical symptoms of DMD; also has Chronic Granulomatous Disease; elevated CPK; abnormal WBC NBT test; bactericidal defect with chronic aspergillosis pulmonary infection; PCR analysis of Dystrophin gene shows deletion starting at the 5 prime end and extends at least through exon 17, exon 19 is not deleted; MLPA analysis of Dystrophin gene alterations and copy number variation (CNV) analysis using the Affymetrix 6.0 gene chip performed on DNA made from this culture showed the deletion of exons 1-18 including alternate exon 1 (del 5 prime end-18); mother is GM07692. |
| 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 |
| |
| 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 |
| |
| Brown J, Dry KL, Edgar AJ, Pryde FE, Hardwick LJ, Aldred MA, Lester DH, Boyle S, Kaplan J, Dufier JL, Ho MF, Monaco AM, Musarella MA, Wright AF, Analysis of three deletion breakpoints in Xp21.1 and the further localization of RP3. Genomics37:200-10 1996 |
| PubMed ID: 8921393 |
| |
| Kousseff B, Linkage between chronic granulomatous disease and Duchenne's muscular dystrophy? [letter] Am J Dis Child135:1149 1981 |
| PubMed ID: 7315816 |
| dbSNP |
dbSNP ID: 11036 |
| Gene Cards |
DMD |
|
XK |
| Gene Ontology |
GO:0003779 actin binding |
|
GO:0005200 structural constituent of cytoskeleton |
|
GO:0005215 transporter activity |
|
GO:0005509 calcium ion binding |
|
GO:0005856 cytoskeleton |
|
GO:0006810 transport |
|
GO:0006865 amino acid transport |
|
GO:0006936 muscle contraction |
|
GO:0007016 cytoskeletal anchoring |
|
GO:0007517 muscle development |
|
GO:0008270 zinc ion binding |
|
GO:0015171 amino acid transporter activity |
|
GO:0016010 dystrophin-associated glycoprotein complex |
|
GO:0016021 integral to membrane |
| NCBI Gene |
Gene ID:1756 |
|
Gene ID:7504 |
| NCBI GTR |
300377 DYSTROPHIN; DMD |
|
306400 GRANULOMATOUS DISEASE, CHRONIC, X-LINKED; CGDX |
|
310200 MUSCULAR DYSTROPHY, DUCHENNE TYPE; DMD |
|
314850 KELL BLOOD GROUP PROTEIN, MCLEOD SYNDROME-ASSOCIATED; XK |
| OMIM |
300377 DYSTROPHIN; DMD |
|
306400 GRANULOMATOUS DISEASE, CHRONIC, X-LINKED; CGDX |
|
310200 MUSCULAR DYSTROPHY, DUCHENNE TYPE; DMD |
|
314850 KELL BLOOD GROUP PROTEIN, MCLEOD SYNDROME-ASSOCIATED; XK |
| Omim Description |
APO-DYSTROPHIN 1, INCLUDED |
| |
BMDDYSTROPHIN, INCLUDED; DMD, INCLUDED |
| |
CARDIOMYOPATHY, X-LINKED DILATED, INCLUDED; XLCM, INCLUDED |
| |
MUSCULAR DYSTROPHY, PSEUDOHYPERTROPHIC PROGRESSIVE, DUCHENNE AND BECKERTYPES; DMD |
|
|