Mutation spectrum of MLL2 in a cohort of Kabuki syndrome patients.

ABSTRACT:

Background

Kabuki syndrome (Niikawa-Kuroki syndrome) is a rare, multiple congenital anomalies/mental retardation syndrome characterized by a peculiar face, short stature, skeletal, visceral and dermatoglyphic abnormalities, cardiac anomalies, and immunological defects. Recently mutations in the histone methyl transferase MLL2 gene have been identified as its underlying cause.

Methods

Genomic DNAs were extracted from 62 index patients clinically diagnosed as affected by Kabuki syndrome. Sanger sequencing was performed to analyze the whole coding region of the MLL2 gene including intron-exon junctions. The putative causal and possible functional effect of each nucleotide variant identified was estimated by in silico prediction tools.

Results

We identified 45 patients wi

SUBMITTER: Micale L 

PROVIDER: S-EPMC3141365 | biostudies-literature | 2011 Jun

REPOSITORIES: biostudies-literature