Description:
MUSCULAR DYSTROPHY, DUCHENNE TYPE; DMD
CHRONIC GRANULOMATOUS DISEASE (XK-RELATED; CGD) - 306400 OR 314850
DYSTROPHIN; DMD
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Repository
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NIGMS Human Genetic Cell Repository
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| Subcollection |
Heritable Diseases
Muscular Dystrophies
GeT-RM Samples |
| Class |
Congenital Muscle Diseases |
| Class |
Disorders of Connective Tissue, Muscle, and Bone |
| Quantity |
25 µg |
| Quantitation Method |
Please see our FAQ |
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Biopsy Source
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Peripheral vein
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Cell Type
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B-Lymphocyte
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Tissue Type
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Blood
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Transformant
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Epstein-Barr Virus
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Sample Source
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DNA from LCL
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Race
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White
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Ethnicity
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JEWISH
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Family Member
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2
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Relation to Proband
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mother
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Confirmation
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Clinical summary/Case history
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ISCN
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46,XX
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Species
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Homo sapiens
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Common Name
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Human
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Remarks
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| 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 |
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| Gene |
DMD |
| Chromosomal Location |
Xp21.2 |
| Allelic Variant 1 |
; DUCHENNE MUSCULAR DYSTROPHY |
| Identified Mutation |
EX1-18DEL (DEL 5 PRIME END-18) |
| Remarks |
Proven carrier of Chronic Granulomatous Disease by the quantitative NBT test; normal CPK; 46,XX; a mat uncle has questionable CGD; another maternal cousin related through a male has DMD (apparently incidental); 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); affected son is GM07691. |
| Kellogg G, Thorsson B, Cai Y, Wisotzkey R, Pollock A, Akana M, Fox R, Jansen M, Gudmundsson EF, Patel B, Chang C, Jaremko M, Puig O, Gudnason V, Emilsson V, Molecular screening of familial hypercholesterolemia in Icelanders Scandinavian journal of clinical and laboratory investigation:1-7 2020 |
| PubMed ID: 32706999 |
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| 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 |
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| 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 |
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| Baehner RL, Kunkel LM, Monaco AP, Haines JL, Conneally PM, Palmer C, Heerema N, Orkin SH, DNA linkage analysis of X chromosome-linked chronic granulomatous disease. Proc Natl Acad Sci U S A83:3398-401 1986 |
| PubMed ID: 3010296 |
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| 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: 16620 |
| Gene Cards |
DMD |
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XK |
| Gene Ontology |
GO:0003779 actin binding |
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GO:0005200 structural constituent of cytoskeleton |
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GO:0005215 transporter activity |
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GO:0005509 calcium ion binding |
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GO:0005856 cytoskeleton |
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GO:0006810 transport |
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GO:0006865 amino acid transport |
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GO:0006936 muscle contraction |
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GO:0007016 cytoskeletal anchoring |
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GO:0007517 muscle development |
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GO:0008270 zinc ion binding |
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GO:0015171 amino acid transporter activity |
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GO:0016010 dystrophin-associated glycoprotein complex |
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GO:0016021 integral to membrane |
| NCBI Gene |
Gene ID:1756 |
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Gene ID:7504 |
| NCBI GTR |
300377 DYSTROPHIN; DMD |
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306400 GRANULOMATOUS DISEASE, CHRONIC, X-LINKED; CGDX |
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310200 MUSCULAR DYSTROPHY, DUCHENNE TYPE; DMD |
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314850 KELL BLOOD GROUP PROTEIN, MCLEOD SYNDROME-ASSOCIATED; XK |
| OMIM |
300377 DYSTROPHIN; DMD |
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306400 GRANULOMATOUS DISEASE, CHRONIC, X-LINKED; CGDX |
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310200 MUSCULAR DYSTROPHY, DUCHENNE TYPE; DMD |
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314850 KELL BLOOD GROUP PROTEIN, MCLEOD SYNDROME-ASSOCIATED; XK |
| Omim Description |
APO-DYSTROPHIN 1, INCLUDED |
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BMDDYSTROPHIN, INCLUDED; DMD, INCLUDED |
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CARDIOMYOPATHY, X-LINKED DILATED, INCLUDED; XLCM, INCLUDED |
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MUSCULAR DYSTROPHY, PSEUDOHYPERTROPHIC PROGRESSIVE, DUCHENNE AND BECKERTYPES; DMD |
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