Identification of novel KMT2D mutations in two Chinese children with Kabuki syndrome: a case report and systematic literature review.

ABSTRACT:

Background

Kabuki syndrome (KS) is a rare pediatric congenital disorder with multiple congenital anomalies and intellectual disabilities, which is inherited in an autosomal dominant manner. Mutations in KMT2D and KDM6A have been proven to be the primary cause in most cases of KS.

Case presentation

Here we report two Chinese boys with clinical features of KS referred to our hospital for clinical diagnosis. Next-generation sequencing was performed on MiSeq to analyze the genetic mutations in both patients. In both, two novel de novo mutations in KMT2D gene (c.5235delA, p.(A1746Lfs*39) and c.7048G > A, p.(Q2350*)) were detected, both of which were subsequently confirmed by the two-generation pedigree analysis based on Sanger sequencing. A systematic literature review of previou

SUBMITTER: Xin C 

PROVIDER: S-EPMC6389055 | biostudies-literature | 2018 Feb

REPOSITORIES: biostudies-literature