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

doi:10.1136/jmedgenet-2017-104620

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Article

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

Journal of medical genetics - 1 Jan 2018

Hamilton Mark J, Caswell Richard C, Canham Natalie, Cole Trevor, Firth Helen V, Foulds Nicola, Heimdal Ketil, Hobson Emma, Houge Gunnar, Joss Shelagh, Kumar Dhavendra, Lampe Anne Katrin, Maystadt Isabelle, McKay Victoria, Metcalfe Kay, Newbury-Ecob Ruth, Park Soo-Mi, Robert Leema, Rustad Cecilie F, Wakeling Emma, Wilkie Andrew O M, Study The Deciphering Developmental Disorders, Twigg Stephen R F, Suri Mohnish

Abstract excerpt

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...

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Identifiers

PMID: 29021403
DOI: 10.1136/jmedgenet-2017-104620
PMCID: PMC5749303

Genes

CDK13

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