| H01879 | |
| H番号 | H01879 |
| 名称 | ウィデマンスタイナー症候群; Alazami-Yuan 症候群 |
| 概要 | Wiedemann-Steiner Syndrome (WDSTS) is a rare autosomal dominant disorder characterized by hairy elbows, dysmorphic facial appearances (hypertelorism, thick eyebrows, downslanted and vertically narrow palpebral fissures), pre- and post-natal growth deficiency, and psychomotor delay. Sharing clinical features with Cornelia de Lange syndrome, WDSTS is another heterogeneous disease. WDSTS is caused by heterozygous mutations in KMT2A, also known as MLL. KMT2A encodes a histone methyltransferase that plays an important role in early development and hematopoiesis. Recently, an autosomal-recessive disorder with Cornelia de Lange syndrome-like features has been reported and termed Alazami-Yuan syndrome. It is caused by homozygous mutations in TAF6, which encodes a core transcriptional regulatory pathway component. |
| カテゴリ | 先天奇形 |
| ネットワーク | - |
| 病因遺伝子 | KMT2A [HSA:4297] [KO:K09186] TAF6 [HSA:6878] [KO:K03131] |
| 病原体 | - |
| 環境要因 | - |
| 発癌物質 | - |
| 治療薬 | - |
| コメント | - |
| リンク | ICD-11: LD2F.1Y ICD-10: Q87.1 OMIM: 605130 617126 |
| 文献 | PMID:25810209 著者 Miyake N, Tsurusaki Y, Koshimizu E, Okamoto N, Kosho T, Brown NJ, Tan TY, Yap PJ, Suzumura H, Tanaka T, Nagai T, Nakashima M, Saitsu H, Niikawa N, Matsumoto N タイトル Delineation of clinical features in Wiedemann-Steiner syndrome caused by KMT2A mutations. 雑誌 Clin Genet 89:115-9 (2016) DOI:10.1111/cge.12586 PMID:28359930 著者 Aggarwal A, Rodriguez-Buritica DF, Northrup H タイトル Wiedemann-Steiner syndrome: Novel pathogenic variant and review of literature. 雑誌 Eur J Med Genet 60:285-288 (2017) DOI:10.1016/j.ejmg.2017.03.006 PMID:25574841 著者 Yuan B, Pehlivan D, Karaca E, Patel N, Charng WL, Gambin T, Gonzaga-Jauregui C, Sutton VR, Yesil G, Bozdogan ST, Tos T, Koparir A, Koparir E, Beck CR, Gu S, Aslan H, Yuregir OO, Al Rubeaan K, Alnaqeb D, Alshammari MJ, Bayram Y, Atik MM, Aydin H, Geckinli BB, Seven M, Ulucan H, Fenercioglu E, Ozen M, Jhangiani S, Muzny DM, Boerwinkle E, Tuysuz B, Alkuraya FS, Gibbs RA, Lupski JR タイトル Global transcriptional disturbances underlie Cornelia de Lange syndrome and related phenotypes. 雑誌 J Clin Invest 125:636-51 (2015) DOI:10.1172/JCI77435 |