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

Am. J. Hum. Genet.2012 Feb 10;90(2):290-4. Epub 2012 Jan 19
Michael A Simpson 1 , Charu Deshpande , Dimitra Dafou , Lisenka E L M Vissers , Wesley J Woollard , Susan E Holder , Gabriele Gillessen-Kaesbach , Ronny Derks , Susan M White , Ruthy Cohen-Snuijf , Sarina G Kant , Lies H Hoefsloot , Willie Reardon , Han G Brunner , Ernie M H F Bongers , Richard C Trembath
Michael A Simpson 1 , Charu Deshpande , Dimitra Dafou , Lisenka E L M Vissers , Wesley J Woollard , Susan E Holder , Gabriele Gillessen-Kaesbach , Ronny Derks , Susan M White , Ruthy Cohen-Snuijf , Sarina G Kant , Lies H Hoefsloot , Willie Reardon , Han G Brunner , Ernie M H F Bongers , Richard C Trembath
+ et al

[No authors listed]

Author information
  • 1 Division of Genetics and Molecular Medicine, King's College London School of Medicine, Guy's Hospital, UK.

摘要


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.