| H01880 | |
| H number | H01880 |
| Name | Autosomal recessive microcephaly and chorioretinopathy |
| Description | Autosomal-recessive microcephaly and chorioretinopathy (MCCRP) is a rare developmental disorder characterized by primary microcephaly, delayed psychomotor development, growth retardation with dwarfism, and visual impairment. In MCCRP, microcephaly ranges from mild to severe and has variable impact on cognitive performance, ranging from moderate developmental delay to normal intelligence. The features of the visual impairment in MCCRP patients are variable, but the chorioretinopathy is a constant feature and includes typical punched-out lesions that can severely impair vision and occasional retinal folds that can progress to retinal detachment. To date, three responsible genes have been described. |
| Category | Congenital malformation |
| Network | nt06515(H01880) Regulation of kinetochore-microtubule interactions |
| Gene | (MCCRP1) TUBGCP6 [HSA:85378] [KO:K16573] (MCCRP2) PLK4 [HSA:10733] [KO:K08863] (MCCRP3) TUBGCP4 [HSA:27229] [KO:K16571] |
| Pathogen | - |
| Env factor | - |
| Carcinogen | - |
| Drug | - |
| Comment | - |
| Other DBs | ICD-11: 9B61 ICD-10: Q87.8 OMIM: 251270 616171 616335 |
| Reference | PMID:5936364 AUTHORS McKusick VA, Stauffer M, Knox DL, Clark DB TITLE Chorioretinopathy with hereditary microcephaly. JOURNAL Arch Ophthalmol 75:597-600 (1966) DOI:10.1001/archopht.1966.00970050599003 PMID:25817018 AUTHORS Scheidecker S, Etard C, Haren L, Stoetzel C, Hull S, Arno G, Plagnol V, Drunat S, Passemard S, Toutain A, Obringer C, Koob M, Geoffroy V, Marion V, Strahle U, Ostergaard P, Verloes A, Merdes A, Moore AT, Dollfus H TITLE Mutations in TUBGCP4 alter microtubule organization via the gamma-tubulin ring complex in autosomal-recessive microcephaly with chorioretinopathy. JOURNAL Am J Hum Genet 96:666-74 (2015) DOI:10.1016/j.ajhg.2015.02.011 PMID:27650967 AUTHORS Tsutsumi M, Yokoi S, Miya F, Miyata M, Kato M, Okamoto N, Tsunoda T, Yamasaki M, Kanemura Y, Kosaki K, Saitoh S, Kurahashi H TITLE Novel compound heterozygous variants in PLK4 identified in a patient with autosomal recessive microcephaly and chorioretinopathy. JOURNAL Eur J Hum Genet 24:1702-1706 (2016) DOI:10.1038/ejhg.2016.119 PMID:22279524 AUTHORS Puffenberger EG, Jinks RN, Sougnez C, Cibulskis K, Willert RA, Achilly NP, Cassidy RP, Fiorentini CJ, Heiken KF, Lawrence JJ, Mahoney MH, Miller CJ, Nair DT, Politi KA, Worcester KN, Setton RA, Dipiazza R, Sherman EA, Eastman JT, Francklyn C, Robey-Bond S, Rider NL, Gabriel S, Morton DH, Strauss KA TITLE Genetic mapping and exome sequencing identify variants associated with five novel diseases. JOURNAL PLoS One 7:e28936 (2012) DOI:10.1371/journal.pone.0028936 PMID:25344692 AUTHORS Martin CA, Ahmad I, Klingseisen A, Hussain MS, Bicknell LS, Leitch A, Nurnberg G, Toliat MR, Murray JE, Hunt D, Khan F, Ali Z, Tinschert S, Ding J, Keith C, Harley ME, Heyn P, Muller R, Hoffmann I, Daire VC, Dollfus H, Dupuis L, Bashamboo A, McElreavey K, Kariminejad A, Mendoza-Londono R, Moore AT, Saggar A, Schlechter C, Weleber R, Thiele H, Altmuller J, Hohne W, Hurles ME, Noegel AA, Baig SM, Nurnberg P, Jackson AP TITLE Mutations in PLK4, encoding a master regulator of centriole biogenesis, cause microcephaly, growth failure and retinopathy. JOURNAL Nat Genet 46:1283-92 (2014) DOI:10.1038/ng.3122 PMID:25320347 AUTHORS Shaheen R, Al Tala S, Almoisheer A, Alkuraya FS TITLE Mutation in PLK4, encoding a master regulator of centriole formation, defines a novel locus for primordial dwarfism. JOURNAL J Med Genet 51:814-6 (2014) DOI:10.1136/jmedgenet-2014-102790 |