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Three de novo variants in KMT2A (MLL) identified by whole exome sequencing in patients with Wiedemann-Steiner syndrome.

Molecular genetics & genomic medicine - 1 Oct 2021

Luo Sukun, Bi Bo, Zhang Wenqian, Zhou Rui, Chen Wei, Zhao Peiwei, Huang Yufeng, Yuan Li, He Xuelian

Abstract excerpt

BACKGROUND: Wiedemann-Steiner syndrome (WSS) is an autosomal dominant disorder characterized by short stature, hypertrichosis, intellectual disability, developmental delay, along with facial dysmorphism. WSS patients exhibit great phenotypic heterogeneities. Some variants in KMT2A (MLL) gene have been identified as the cause of WSS. METHODS: Whole exome sequencing on the probands followed by Sanger sequencing...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 34469078
DOI: 10.1002/mgg3.1798
PMCID: PMC8580087

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