H01828 | |
H番号 | H01828 |
名称 | 成熟遅延骨異形成症 |
概要 | Opsismodysplasia (OPS) is a rare, autosomal-recessive skeletal dysplasia primarily characterized by growth plate defects and delayed bone maturation. Its clinical features are rhizomelic micromelia and facial dysmorphism, including prominent brow, large fontanels, depressed nasal bridge, and small anteverted nose with long philtrum, as well as short feet and hands with sausage-like fingers. Death secondary to respiratory failure during the first few years of life was reported in the cases originally described but the outcome is now known to be highly variable with multiple long-term survivors. Typical radiographical features include short long bones with markedly delayed epiphyseal mineralization, metaphyseal cupping, short metacarpals and phalanges, and severe platyspondyly. Mutations in the gene encoding inositol polyphosphate phosphatase-like 1 (INPPL1) are found in several families with OPS. However, not all patients have INPPL1 variants suggesting that OPS exhibits genetic heterogeneity. |
カテゴリ | 先天奇形 |
ネットワーク | - |
病因遺伝子 | INPPL1 [HSA:3636] [KO:K15909] |
病原体 | - |
環境要因 | - |
発癌物質 | - |
治療薬 | - |
コメント | - |
リンク | ICD-11: LD24.5Y ICD-10: Q78.8 MeSH: C537122 OMIM: 258480 |
文献 | PMID:27708270 著者 Fradet A, Fitzgerald J タイトル INPPL1 gene mutations in opsismodysplasia. 雑誌 J Hum Genet 62:135-140 (2017) DOI:10.1038/jhg.2016.119 PMID:23552673 著者 Iida A, Okamoto N, Miyake N, Nishimura G, Minami S, Sugimoto T, Nakashima M, Tsurusaki Y, Saitsu H, Shiina M, Ogata K, Watanabe S, Ohashi H, Matsumoto N, Ikegawa S タイトル Exome sequencing identifies a novel INPPL1 mutation in opsismodysplasia. 雑誌 J Hum Genet 58:391-4 (2013) DOI:10.1038/jhg.2013.25 PMID:23273567 著者 Below JE, Earl DL, Shively KM, McMillin MJ, Smith JD, Turner EH, Stephan MJ, Al-Gazali LI, Hertecant JL, Chitayat D, Unger S, Cohn DH, Krakow D, Swanson JM, Faustman EM, Shendure J, Nickerson DA, Bamshad MJ タイトル Whole-genome analysis reveals that mutations in inositol polyphosphate phosphatase-like 1 cause opsismodysplasia. 雑誌 Am J Hum Genet 92:137-43 (2013) DOI:10.1016/j.ajhg.2012.11.011 |