• 3
    Haplo
    Score
  • 0
    Triplo
    Score

Gene Facts External Data Attribution

HGNC Symbol
DMD (HGNC:2928) HGNC Entrez Ensembl OMIM UCSC Uniprot GeneReviews LOVD LSDB ClinVar
HGNC Name
dystrophin
Gene type
protein-coding gene
Locus type
gene with protein product
Previous symbols
MRX85
Alias symbols
BMD, DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272
%HI
0.27(Read more about the DECIPHER Haploinsufficiency Index)
pLI
1(Read more about gnomAD pLI score)
LOEUF
0.15(Read more about gnomAD LOEUF score)
Cytoband
Xp21.2-p21.1
Genomic Coordinates
GRCh37/hg19: chrX:31137339-33357505 NCBI Ensembl UCSC
GRCh38/hg38: chrX:31119222-33339388 NCBI Ensembl UCSC
MANE Select Transcript
NM_004006.3 ENST00000357033.9 (Read more about MANE Select)
Function
Anchors the extracellular matrix to the cytoskeleton via F- actin. Ligand for dystroglycan. Component of the dystrophin-associated glycoprotein complex which accumulates at the neuromuscular junction (NMJ) and at a variety of synapses in the peripheral and central nervous systems and has a structural function in stabilizing the sarcolemma. Also implicated in signaling events and synaptic transmission. {ECO:0000250|UniProtKB:P11531, ECO:0000269|PubMed:16710609}. (Source: Uniprot)

Dosage Sensitivity Summary (Gene)

Dosage ID:
ISCA-6635
Curation Status:
Complete
Issue Type:
Dosage Curation - Gene
Haploinsufficiency:
Sufficient Evidence for Haploinsufficiency (3)
Triplosensitivity:
No Evidence for Triplosensitivity (0)
Last Evaluated:
11/20/2019

Haploinsufficiency (HI) Score Details

HI Score:
3
HI Evidence Strength:
Sufficient Evidence for Haploinsufficiency (Disclaimer)
HI Disease:
HI Evidence Comments:
Whole gene and intragenic DMD deletions, as well as intragenic duplications and sequence-level mutations, have been identified in a spectrum of muscle diseases known as the dystrophinopathies; Duchenne muscular dystrophy (DMD), Becker Muscular Dystrophy (BMD), and Cardiomyopathy, dilated, 3B (CMD3B). Resultant phenotypes are best correlated with the degree of dystrophin protein expression. In general, mutations leading to a complete loss-of-function cause DMD while those that reduce dystrophin protein levels and/or function lead to BMD. These genotype;phenotype correlations were confirmed by PMID 16770791: Aartsma-Rus et al., 2006, in a review of over 4700 reported mutations in the Leiden Duchenne Muscular Dystrophy Database. Mutations of the muscle promoter and first exon of the DMD gene that affect cardiac-specific dystrophin expression lead to CMD3B. Penetrance in carrier females varies and may depend on mutation type and pattern of X-chromosome inactivation. Carrier females may manifest a dilated cardiomyopathy phenotype; see GeneReviews for additional information.
NOTE:

The loss-of-function and triplosensitivity ratings for genes on the X chromosome are made in the context of a male genome to account for the effects of hemizygous duplications or nullizygous deletions. In contrast, disruption of some genes on the X chromosome causes male lethality and the ratings of dosage sensitivity instead take into account the phenotype in female individuals. Factors that may affect the severity of phenotypes associated with X-linked disorders include the presence of variable copies of the X chromosome (i.e. 47,XXY or 45,X) and skewed X-inactivation in females.

Triplosensitivity (TS) Score Details

TS Score:
0
TS Evidence Strength:
No Evidence for Triplosensitivity (Disclaimer)
TS Evidence Comments:
While whole gene duplications have not been reported in association with clinical phenotypes, intragenic DMD duplications and triplications have been reported in patients with DMD and BMD, presumably by a loss-of-function-type mechanism.
NOTE:

The loss-of-function and triplosensitivity ratings for genes on the X chromosome are made in the context of a male genome to account for the effects of hemizygous duplications or nullizygous deletions. In contrast, disruption of some genes on the X chromosome causes male lethality and the ratings of dosage sensitivity instead take into account the phenotype in female individuals. Factors that may affect the severity of phenotypes associated with X-linked disorders include the presence of variable copies of the X chromosome (i.e. 47,XXY or 45,X) and skewed X-inactivation in females.

Genomic View

Select assembly: (NC_000023.10) (NC_000023.11)