Heterozygous mutations affecting the protein kinase domain of <i>CDK13</i> cause a syndromic form of developmental delay and intellectual disability.

ABSTRACT:

Introduction

Recent evidence has emerged linking mutations in CDK13 to syndromic congenital heart disease. We present here genetic and phenotypic data pertaining to 16 individuals with CDK13 mutations.

Methods

Patients were investigated by exome sequencing, having presented with developmental delay and additional features suggestive of a syndromic cause.

Results

Our cohort comprised 16 individuals aged 4-16 years. All had developmental delay, including six with autism spectrum disorder. Common findings included feeding difficulties (15/16), structural cardiac anomalies (9/16), seizures (4/16) and abnormalities of the corpus callosum (4/11 patients who had undergone MRI). All had craniofacial dysmorphism, with common features including short, upslanting p

SUBMITTER: Hamilton MJ 

PROVIDER: S-EPMC5749303 | biostudies-literature | 2018 Jan

REPOSITORIES: biostudies-literature