Novel KDM6A splice-site mutation in kabuki syndrome with congenital hydrocephalus: a case report.

ABSTRACT:

Background

Kabuki syndrome (KS) is a rare congenital anomaly syndrome affecting multiple organs. Two genes have been shown to be mutated in patients with KS: lysine (K)-specific demethylase 6A (KDM6A) and lysine (K)-specific methyltransferase 2D (KMT2D, formerly MLL2). Although the congenital clinical characteristic is helpful in diagnosis of the KS, there are no reports of specific findings in fetuses that might suggest the syndrome prenatally.

Case presentation

In this study, we described a male patient with a novel KDM6A splicing in exon(exon4) and flanking intron(intron3)-exon boundaries characterized by congenital hydrocephalus which had never been reported before. The male patient had inherited the c.335-1G > T splice site mutation from his mother who had fewer dysmorp

SUBMITTER: Guo Z 

PROVIDER: S-EPMC6276138 | biostudies-literature | 2018 Dec

REPOSITORIES: biostudies-literature