Journal article

Whole-Exome-Sequencing Identifies Mutations in Histone Acetyltransferase Gene KAT6B in Individuals with the Say-Barber-Biesecker Variant of Ohdo Syndrome

Jill Clayton-Smith, James O'Sullivan, Sarah Daly, Sanjeev Bhaskar, Ruth Day, Beverley Anderson, Anne K Voss, Tim Thomas, Leslie G Biesecker, Philip Smith, Alan Fryer, Kate E Chandler, Bronwyn Kerr, May Tassabehji, Sally-Ann Lynch, Malgorzata Krajewska-Walasek, Shane McKee, Janine Smith, Elizabeth Sweeney, Sahar Mansour Show all

AMERICAN JOURNAL OF HUMAN GENETICS | CELL PRESS | Published : 2011

Abstract

Say-Barber-Biesecker-Young-Simpson syndrome (SBBYSS or Ohdo syndrome) is a multiple anomaly syndrome characterized by severe intellectual disability, blepharophimosis, and a mask-like facial appearance. A number of individuals with SBBYSS also have thyroid abnormalities and cleft palate. The condition usually occurs sporadically and is therefore presumed to be due in most cases to new dominant mutations. In individuals with SBBYSS, a whole-exome sequencing approach was used to demonstrate de novo protein-truncating mutations in the highly conserved histone acetyltransferase gene KAT6B (MYST4/MORF)) in three out of four individuals sequenced. Sanger sequencing was used to confirm truncating m..

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Grants

Awarded by National Institute for Health Research


Awarded by NATIONAL HUMAN GENOME RESEARCH INSTITUTE


Funding Acknowledgements

Clinical and Laboratory work carried out within the Genetic Medicine Department at St Mary's Hospital was supported by the Manchester Biomedical Research Centre funded by the National Institute for Health Research. Research into clefting syndromes in Manchester is supported by the Healing Foundation. The Clinseq project was funded by the National Institute of Health. A.K.V. and T.T. were supported by project grants and research fellowships from the Australian NHMRC as well as through infrastructure funding from the Victorian government.