| H01287 | |
| H number | H01287 |
| Name | Congenital mirror movements |
| Description | Mirror movements (MRMV) are involuntary movements of one side of the body that mirror intentional movements on the opposite side. While mirror movements are occasionally found in young children, persistence beyond the age of 10 is abnormal. Congenital mirror movements is a rare disorder that is mainly inherited in an autosomal-dominant fashion. Mutations in DCC, the gene encoding receptor for netrin 1 have been identified in MRMV patients. It has also been reported that RAD51 haploinsufficiency causes the heterogeneous MRMV. |
| Category | Nervous system disease |
| Network | - |
| Gene | (MRMV1) DCC [HSA:1630] [KO:K06765] (MRMV2) RAD51A [HSA:5888] [KO:K04482] (MRMV3) DNAL4 [HSA:10126] [KO:K10412] (MRMV4) NTN1 [HSA:9423] [KO:K06843] |
| Pathogen | - |
| Env factor | - |
| Carcinogen | - |
| Drug | - |
| Comment | - |
| Other DBs | ICD-11: 8A07.Y ICD-10: G25.8 OMIM: 157600 614508 616059 618264 |
| Reference | PMID:20431009 AUTHORS Srour M, Riviere JB, Pham JM, Dube MP, Girard S, Morin S, Dion PA, Asselin G, Rochefort D, Hince P, Diab S, Sharafaddinzadeh N, Chouinard S, Theoret H, Charron F, Rouleau GA TITLE Mutations in DCC cause congenital mirror movements. JOURNAL Science 328:592 (2010) DOI:10.1126/science.1186463 PMID:22305526 AUTHORS Depienne C, Bouteiller D, Meneret A, Billot S, Groppa S, Klebe S, Charbonnier-Beaupel F, Corvol JC, Saraiva JP, Brueggemann N, Bhatia K, Cincotta M, Brochard V, Flamand-Roze C, Carpentier W, Meunier S, Marie Y, Gaussen M, Stevanin G, Wehrle R, Vidailhet M, Klein C, Dusart I, Brice A, Roze E TITLE RAD51 haploinsufficiency causes congenital mirror movements in humans. JOURNAL Am J Hum Genet 90:301-7 (2012) DOI:10.1016/j.ajhg.2011.12.002 PMID:25098561 AUTHORS Ahmed I, Mittal K, Sheikh TI, Vasli N, Rafiq MA, Mikhailov A, Ohadi M, Mahmood H, Rouleau GA, Bhatti A, Ayub M, Srour M, John P, Vincent JB TITLE Identification of a homozygous splice site mutation in the dynein axonemal light chain 4 gene on 22q13.1 in a large consanguineous family from Pakistan with congenital mirror movement disorder. JOURNAL Hum Genet 133:1419-29 (2014) DOI:10.1007/s00439-014-1475-8 PMID:28945198 AUTHORS Meneret A, Franz EA, Trouillard O, Oliver TC, Zagar Y, Robertson SP, Welniarz Q, Gardner RJM, Gallea C, Srour M, Depienne C, Jasoni CL, Dubacq C, Riant F, Lamy JC, Morel MP, Guerois R, Andreani J, Fouquet C, Doulazmi M, Vidailhet M, Rouleau GA, Brice A, Chedotal A, Dusart I, Roze E, Markie D TITLE Mutations in the netrin-1 gene cause congenital mirror movements. JOURNAL J Clin Invest 127:3923-3936 (2017) DOI:10.1172/JCI95442 |