H01879 | |
H number | H01879 |
Name | Wiedemann-Steiner syndrome; Alazami-Yuan syndrome |
Description | 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. |
Category | Congenital malformation |
Network | - |
Gene | KMT2A [HSA:4297] [KO:K09186] TAF6 [HSA:6878] [KO:K03131] |
Pathogen | - |
Env factor | - |
Carcinogen | - |
Drug | - |
Comment | - |
Other DBs | ICD-11: LD2F.1Y ICD-10: Q87.1 OMIM: 605130 617126 |
Reference | PMID:25810209 AUTHORS 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 TITLE Delineation of clinical features in Wiedemann-Steiner syndrome caused by KMT2A mutations. JOURNAL Clin Genet 89:115-9 (2016) DOI:10.1111/cge.12586 PMID:28359930 AUTHORS Aggarwal A, Rodriguez-Buritica DF, Northrup H TITLE Wiedemann-Steiner syndrome: Novel pathogenic variant and review of literature. JOURNAL Eur J Med Genet 60:285-288 (2017) DOI:10.1016/j.ejmg.2017.03.006 PMID:25574841 AUTHORS 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 TITLE Global transcriptional disturbances underlie Cornelia de Lange syndrome and related phenotypes. JOURNAL J Clin Invest 125:636-51 (2015) DOI:10.1172/JCI77435 |