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Article

Further delineation of the phenotype of truncating KMT2A mutations: The extended Wiedemann-Steiner syndrome.

American journal of medical genetics. Part A - 1 Feb 2017

Sun Yu, Hu Guorui, Liu Huili, Zhang Xia, Huang Zhuo, Yan Hui, Wang Lili, Fan Yanjie, Gu Xuefan, Yu Yongguo

Abstract excerpt

KMT2A mutations cause Wiedemann-Steiner syndrome (WDSTS), which is characterized by hypertrichosis cubiti, short stature, and distinct facial features in general. Here, we report two Chinese boys with novel nonsense KMT2A mutations. Most of their phenotypes are concordant with WDSTS. They, however, lack the key WDSTS feature-hypertrichosis cubiti. Additionally, their transverse palmar creases are absent. We...

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PMID: 27759909
DOI: 10.1002/ajmg.a.38025

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