Phenotypic and molecular characterisation of CDK13-related congenital heart defects, dysmorphic facial features and intellectual developmental disorders.

doi:10.1186/s13073-017-0463-8

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Article

Phenotypic and molecular characterisation of CDK13-related congenital heart defects, dysmorphic facial features and intellectual developmental disorders.

Genome medicine - 14 Aug 2017

Bostwick Bret L, McLean Scott, Posey Jennifer E, Streff Haley E, Gripp Karen W, Blesson Alyssa, Powell-Hamilton Nina, Tusi Jessica, Stevenson David A, Farrelly Ellyn, Hudgins Louanne, Yang Yaping, Xia Fan, Wang Xia, Liu Pengfei, Walkiewicz Magdalena, McGuire Marianne, Grange Dorothy K, Andrews Marisa V, Hummel Marybeth, Madan-Khetarpal Suneeta, Infante Elena, Coban-Akdemir Zeynep, Miszalski-Jamka Karol, Jefferies John L, Rosenfeld Jill A, Emrick Lisa, Nugent Kimberly M, Lupski James R, Belmont John W, Lee Brendan, Lalani Seema R

Abstract excerpt

BACKGROUND: De novo missense variants in CDK13 have been described as the cause of syndromic congenital heart defects in seven individuals ascertained from a large congenital cardiovascular malformations cohort. We aimed to further define the phenotypic and molecular spectrum of this newly described disorder. METHODS: To minimise ascertainment bias, we recruited nine additional individuals with CDK13 pathogenic...

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Identifiers

PMID: 28807008
DOI: 10.1186/s13073-017-0463-8
PMCID: PMC5557075

Genes

CDK13

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