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Title: Further delineation of the KAT6B molecular and phenotypic spectrum
Authors: Gannon, Tamsin ×
Perveen, Rahat
Schlecht, Hélene
Ramsden, Simon
Anderson, Beverley
Kerr, Bronwyn
Day, Ruth
Banka, Siddharth
Suri, Mohnish
Berland, Siren
Gabbett, Michael
Ma, Alan
Lyonnet, Stan
Cormier-Daire, Valerie
Yilmaz, Rüstem
Borck, Guntram
Wieczorek, Dagmar
Anderlid, Britt-Marie
Smithson, Sarah
Vogt, Julie
Moore-Barton, Heather
Simsek-Kiper, Pelin Ozlem
Maystadt, Isabelle
Destrée, Anne
Bucher, Jessica
Angle, Brad
Mohammed, Shehla
Wakeling, Emma
Price, Sue
Singer, Amihood
Sznajer, Yves
Toutain, Annick
Haye, Damien
Newbury-Ecob, Ruth
Fradin, Melanie
McGaughran, Julie
Tuysuz, Beyhan
Tein, Mark
Bouman, Katelijne
Dabir, Tabib
Van den Ende, Jenneke
Luk, Ho Ming
Pilz, Daniela T
Eason, Jacqueline
Davies, Sally
Reardon, Willie
Garavelli, Livia
Zuffardi, Orsetta
Devriendt, Koenraad
Armstrong, Ruth
Johnson, Diana
Doco-Fenzy, Martine
Bijlsma, Emilia
Unger, Sheila
Veenstra-Knol, Hermine E
Kohlhase, Jürgen
Lo, Ivan Fm
DDD study
Smith, Janine
Clayton-Smith, Jill #
Issue Date: Sep-2015
Publisher: Karger
Series Title: European Journal of Human Genetics vol:23 issue:9 pages:1165-70
Article number: 10.1038/ejhg.2014.248
Abstract: KAT6B sequence variants have been identified previously in both patients with the Say-Barber-Biesecker type of blepharophimosis mental retardation syndromes (SBBS) and in the more severe genitopatellar syndrome (GPS). We report on the findings in a previously unreported group of 57 individuals with suggestive features of SBBS or GPS. Likely causative variants have been identified in 34/57 patients and were commonly located in the terminal exons of KAT6B. Of those where parental samples could be tested, all occurred de novo. Thirty out of thirty-four had truncating variants, one had a missense variant and the remaining three had the same synonymous change predicted to affect splicing. Variants in GPS tended to occur more proximally to those in SBBS patients, and genotype/phenotype analysis demonstrated significant clinical overlap between SBBS and GPS. The de novo synonymous change seen in three patients with features of SBBS occurred more proximally in exon 16. Statistical analysis of clinical features demonstrated that KAT6B variant-positive patients were more likely to display hypotonia, feeding difficulties, long thumbs/great toes and dental, thyroid and patella abnormalities than KAT6B variant-negative patients. The few reported patients with KAT6B haploinsufficiency had a much milder phenotype, though with some features overlapping those of SBBS. We report the findings in a previously unreported patient with a deletion of the KAT6B gene to further delineate the haploinsufficiency phenotype. The molecular mechanisms giving rise to the SBBS and GPS phenotypes are discussed.European Journal of Human Genetics advance online publication, 26 November 2014; doi:10.1038/ejhg.2014.248.
URI: 
ISSN: 1018-4813
Publication status: published
KU Leuven publication type: IT
Appears in Collections:Department of Human Genetics - miscellaneous
× corresponding author
# (joint) last author

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