DMD DMD

Duchenne muscular dystrophy (DMD) is a neuromuscular disease characterized by rapidly progressive muscle weakness and wasting due to degeneration of skeletal, smooth and cardiac muscle¹.

Prevalence

4.8 100,000

Believed to be 0 for disease specific to STR expansion. 1/3500-4700 male births (incidence) for overall DMD (one of the most common and severe congenital myopathies)². 4.8/100,000 prevalence³. DMD repeat locus expansion only identified in one Greek family⁴.

Age of Onset Details

Typical: 6-7 (usual disease is 0-3)⁴.

Locus

hg19

chrX:31302674-31302722

hg38

chrX:31284557-31284605

t2t

chrX:30882695-30882743

Details

There is conflicting evidence for the association between this repeat expansion and Duchenne muscular dystrophy. The association was reported in a single family, from which the benign and pathogenic ranges were inferred from affected and unaffected family members⁴. The population frequency of the proposed pathogenic allele is much higher than expected for a highly penetrant early-onset condition.

Mechanism

LoF

Functional defect in dystrophin/dystroglycan⁵.

Year

2016⁴

Location in Gene

Intron 62

Gene Strand

Alleles

Ref. Motif

TTC

Pathogenic (ref.)

TTC

Pathogenic (gene)

AAG

gnomAD

References

Direct supporting references for info on this page.

Ontology Lookup Service (OLS)

mondo:0010679

Dystrophinopathies

Basil T.,Darras, David K.,Urion, Partha S.,Ghosh

GeneReviews® · 1993-01-01

genereviews:NBK1119

Global prevalence of Duchenne and Becker muscular dystrophy: a systematic review and meta-analysis.

Nader,Salari, Behnaz,Fatahi, Elahe,Valipour, Mohsen,Kazeminia, Reza,Fatahian, Aliakbar,Kiaei, Shamarina,Shohaimi, Masoud,Mohammadi

Journal of orthopaedic surgery and research · 2022-02-15

pmid:35168641

A dynamic trinucleotide repeat (TNR) expansion in the DMD gene.

Kyriaki,Kekou, Christalena,Sofocleous, George,Papadimas, Dimitris,Petichakis, Maria,Svingou, Roser-Maria,Pons, Pelagia,Vorgia, Artemis,Gika, Sophia,Kitsiou-Tzeli, Emmanuel,Kanavakis

Molecular and cellular probes · 2016-07-12

pmid:27417533

The genetic and molecular basis of muscular dystrophy: roles of cell-matrix linkage in the pathogenesis.

Motoi,Kanagawa, Tatsushi,Toda

Journal of human genetics · 2006-09-13

pmid:16969582

Additional Literature

Additional literature related to this locus.

Raw PubMed search results
(All PubMed results returned by searching for this gene, tandem repeats, and disease, in medline format)

Modulation of the JAK2-STAT3 pathway promotes expansion and maturation of human iPSCs-derived myogenic progenitor cells.

Luca,Caputo, Cedomir,Stamenkovic, Matthew T,Tierney, Maria Sofia,Falzarano, Rhonda,Bassel-Duby, Alessandra,Ferlini, Eric N,Olson, Pier Lorenzo,Puri, Alessandra,Sacco

bioRxiv : the preprint server for biology · 2024-12-10

pmid:39713478

Identifying inversions with breakpoints in the Dystrophin gene through long-read sequencing: report of two cases.

Liqing,Chen, Xiaoping,Luo, Hongling,Wang, Yu,Tian, Yan,Liu

BMC medical genomics · 2024-09-09

pmid:39251998

Medicaid Expansion and Racial-Ethnic and Sex Disparities in Cardiovascular Diseases Over 6 Years: A Generalized Synthetic Control Approach.

Roch A,Nianogo, Fan,Zhao, Stephen,Li, Akihiro,Nishi, Sanjay,Basu

Epidemiology (Cambridge, Mass.) · 2023-01-30

pmid:38290145

Clinical interpretation of cell-based non-invasive prenatal testing for monogenic disorders including repeat expansion disorders: potentials and pitfalls.

Line Dahl,Jeppesen, Lotte,Hatt, Ripudaman,Singh, Palle,Schelde, Katarina,Ravn, Christian Liebst,Toft, Maria Bach,Laursen, Jakob,Hedegaard, Inga Baasch,Christensen, Bolette Hestbek,Nicolaisen, Lotte,Andreasen, Lars Henning,Pedersen, Ida,Vogel, Dorte Launholt,Lildballe

Frontiers in genetics · 2023-09-27

pmid:37829280

Clinical application of next generation sequencing-based haplotype linkage analysis in the preimplantation genetic testing for germline mosaicisms.

Dongjia,Chen, Yan,Xu, Yu,Fu, Yali,Wang, Yuliang,Liu, Chenhui,Ding, Bing,Cai, Jiafu,Pan, Jing,Wang, Rong,Li, Jing,Guo, Han,Zhang, Yanhong,Zeng, Xiaoting,Shen, Canquan,Zhou

Orphanet journal of rare diseases · 2023-06-03

pmid:37270548

Transcriptome and Genome Analysis Uncovers a

Chiara,Folland, Vijay,Ganesh, Ben,Weisburd, Catriona,McLean, Andrew J,Kornberg, Anne,O'Donnell-Luria, Heidi L,Rehm, Igor,Stevanovski, Sanjog R,Chintalaphani, Paul,Kennedy, Ira W,Deveson, Gianina,Ravenscroft

Neurology. Genetics · 2023-03-14

pmid:37090938

Differential Binding and Conformational Dynamics of Tau Microtubule-Binding Repeats with a Preformed Amyloid-β Fibril Seed.

Zhiyuan,Song, Adam J,Gatch, Yunxiang,Sun, Feng,Ding

ACS chemical neuroscience · 2023-03-28

pmid:36975100

RNA-seq analysis, targeted long-read sequencing and in silico prediction to unravel pathogenic intronic events and complicated splicing abnormalities in dystrophinopathy.

Mariko,Okubo, Satoru,Noguchi, Tomonari,Awaya, Motoyasu,Hosokawa, Nobue,Tsukui, Megumu,Ogawa, Shinichiro,Hayashi, Hirofumi,Komaki, Madoka,Mori-Yoshimura, Yasushi,Oya, Yuji,Takahashi, Tetsuhiro,Fukuyama, Michinori,Funato, Yousuke,Hosokawa, Satoru,Kinoshita, Tsuyoshi,Matsumura, Sadao,Nakamura, Azusa,Oshiro, Hiroshi,Terashima, Tetsuro,Nagasawa, Tatsuharu,Sato, Yumi,Shimada, Yasuko,Tokita, Masatoshi,Hagiwara, Katsuhisa,Ogata, Ichizo,Nishino

Human genetics · 2022-09-01

pmid:36048237

Long-Read Sequencing Revealed Extragenic and Intragenic Duplications of Exons 56-61 in

Ying,Bai, Ju,Liu, Jinghan,Xu, Yue,Sun, Jingjing,Li, Yong,Gao, Lina,Liu, Cangcang,Jia, Xiangdong,Kong, Li,Wang

Frontiers in genetics · 2022-05-09

pmid:35615378