Description of the molecular and phenotypic spectrum of Wiedemann-Steiner syndrome in Chinese patients.

ABSTRACT:

Background

Wiedemann-Steiner syndrome (WDSTS) is a rare genetic disorder characterized by facial gestalt, neurodevelopmental delay, skeletal anomalies and growth retardation, which is caused by variation of KMT2A gene. To date, only 2 Chinese WDSTS patients have been reported. Here, we report the phenotypes and KMT2A gene variations in 14 unrelated Chinese WDSTS patients and investigate the phenotypic differences between the Chinese and French cohorts.

Methods

Next generation sequencing was performed for each patient, and the variants in the KMT2A gene were validated by Sanger sequencing. The phenotypes of 16 Chinese WDSTS patients were summarized and compared to 33 French patients.

Results

Genetic sequencing identified 13 deleterious de novo KMT2A variants in 14 pati

SUBMITTER: Li N 

PROVIDER: S-EPMC6180513 | biostudies-literature | 2018 Oct

REPOSITORIES: biostudies-literature