| H01880 | |
| H番号 | H01880 |
| 名称 | 常染色体劣性遺伝性小頭症および網脈絡膜症 |
| 概要 | 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. |
| カテゴリ | 先天奇形 |
| ネットワーク | nt06515(H01880) Regulation of kinetochore-microtubule interactions |
| 病因遺伝子 | (MCCRP1) TUBGCP6 [HSA:85378] [KO:K16573] (MCCRP2) PLK4 [HSA:10733] [KO:K08863] (MCCRP3) TUBGCP4 [HSA:27229] [KO:K16571] |
| 病原体 | - |
| 環境要因 | - |
| 発癌物質 | - |
| 治療薬 | - |
| コメント | - |
| リンク | ICD-11: 9B61 ICD-10: Q87.8 OMIM: 251270 616171 616335 |
| 文献 | PMID:5936364 著者 McKusick VA, Stauffer M, Knox DL, Clark DB タイトル Chorioretinopathy with hereditary microcephaly. 雑誌 Arch Ophthalmol 75:597-600 (1966) DOI:10.1001/archopht.1966.00970050599003 PMID:25817018 著者 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 タイトル Mutations in TUBGCP4 alter microtubule organization via the gamma-tubulin ring complex in autosomal-recessive microcephaly with chorioretinopathy. 雑誌 Am J Hum Genet 96:666-74 (2015) DOI:10.1016/j.ajhg.2015.02.011 PMID:27650967 著者 Tsutsumi M, Yokoi S, Miya F, Miyata M, Kato M, Okamoto N, Tsunoda T, Yamasaki M, Kanemura Y, Kosaki K, Saitoh S, Kurahashi H タイトル Novel compound heterozygous variants in PLK4 identified in a patient with autosomal recessive microcephaly and chorioretinopathy. 雑誌 Eur J Hum Genet 24:1702-1706 (2016) DOI:10.1038/ejhg.2016.119 PMID:22279524 著者 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 タイトル Genetic mapping and exome sequencing identify variants associated with five novel diseases. 雑誌 PLoS One 7:e28936 (2012) DOI:10.1371/journal.pone.0028936 PMID:25344692 著者 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 タイトル Mutations in PLK4, encoding a master regulator of centriole biogenesis, cause microcephaly, growth failure and retinopathy. 雑誌 Nat Genet 46:1283-92 (2014) DOI:10.1038/ng.3122 PMID:25320347 著者 Shaheen R, Al Tala S, Almoisheer A, Alkuraya FS タイトル Mutation in PLK4, encoding a master regulator of centriole formation, defines a novel locus for primordial dwarfism. 雑誌 J Med Genet 51:814-6 (2014) DOI:10.1136/jmedgenet-2014-102790 |