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De novo mutations of the gene encoding the histone acetyltransferase KAT6B cause Genitopatellar syndrome.

ABSTRACT: Genitopatellar syndrome (GPS) is a rare disorder in which patellar aplasia or hypoplasia is associated with external genital anomalies and severe intellectual disability. Using an exome-sequencing approach, we identified de novo mutations of KAT6B in five individuals with GPS; a single nonsense variant and three frameshift indels, including a 4 bp deletion observed in two cases. All identified mutations are located within the terminal exon of the gene and are predicted to generate a truncated protein product lacking evolutionarily conserved domains. KAT6B encodes a member of the MYST family of histone acetyltranferases. We demonstrate a reduced level of both histone H3 and H4 acetylation in patient-derived cells suggesting that dysregulation of histone acetylation is a direct functional consequence of GPS alleles. These findings define the genetic basis of GPS and illustrate the complex role of the regulation of histone acetylation during development.

SUBMITTER: Simpson MA

PROVIDER: S-EPMC3276665 | biostudies-literature | 2012 Feb

REPOSITORIES: biostudies-literature

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De novo mutations of the gene encoding the histone acetyltransferase KAT6B cause Genitopatellar syndrome.

Simpson Michael A MA Deshpande Charu C Dafou Dimitra D Vissers Lisenka E L M LE Woollard Wesley J WJ Holder Susan E SE Gillessen-Kaesbach Gabriele G Derks Ronny R White Susan M SM Cohen-Snuijf Ruthy R Kant Sarina G SG Hoefsloot Lies H LH Reardon Willie W Brunner Han G HG Bongers Ernie M H F EM Trembath Richard C RC

American journal of human genetics 20120119 2

Genitopatellar syndrome (GPS) is a rare disorder in which patellar aplasia or hypoplasia is associated with external genital anomalies and severe intellectual disability. Using an exome-sequencing approach, we identified de novo mutations of KAT6B in five individuals with GPS; a single nonsense variant and three frameshift indels, including a 4 bp deletion observed in two cases. All identified mutations are located within the terminal exon of the gene and are predicted to generate a truncated pr ...[more]

PMID: 22265017

Dataset Information

De novo mutations of the gene encoding the histone acetyltransferase KAT6B cause Genitopatellar syndrome.

Publications

De novo mutations of the gene encoding the histone acetyltransferase KAT6B cause Genitopatellar syndrome.

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