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Wiedemann-Steiner syndrome
Wiedemann-Steiner syndrome is a rare genetic disorder which causes developmental delay, unusual facial features (dysmorphism), short stature and low muscle tone. It is inherited in an autosomal dominant fashion but all cases reported so far have been sporadic.〔http://www.omim.org/entry/605130?search=wiedemann-steiner&highlight=wiedemannsteiner〕 The syndrome was originally described in 1989.〔Wiedemann H-R, Kunze J, Dibbern H. 1989. ''Atlas der klinischen Syndrome für Klinik und Praxis'' 3rd edition. Stuttgart: Schattauer. pp 198-199. ISBN 9783794516827〕
==Cause==
Wiedemann-Steiner results from mutations in the MLL (also known as KMT2A) gene on the long arm of chromosome 11. The gene encodes a histone-modification enzyme - that is, it helps modify the expression of other genes.〔http://www.omim.org/entry/159555〕 The condition is autosomal dominant meaning that only one abnormal copy of the gene is needed for a person to have Wiedemann-Steiner syndrome. In nearly all the cases reported the mutation has occurred de novo, i.e. neither parent was affected, with one exception, a father and son who have both been diagnosed.
The mechanism by which mutations in the MLL gene cause the phenotype of Wiedemann-Steiner syndrome is not yet known.
抄文引用元・出典: フリー百科事典『 ウィキペディア（Wikipedia）』
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