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    Further delineation of the KAT6B molecular and phenotypic spectrum.

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    FurtherDelineationoftheKAT6BMo ...
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    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, Koen
    Armstrong, Ruth
    Johnson, Diana
    Doco-Fenzy, Martine
    Bijlsma, Emilia
    Unger, Sheila
    Veenstra-Knol, Hermine E
    Kohlhase, Jürgen
    Lo, Ivan F M
    Smith, Janine
    Clayton-Smith, Jill
    Show allShow less
    Issue Date
    2015-09
    Keywords
    GENETICS
    INTELLECTUAL DISABILITIES
    DEVELOPMENTAL DISABILITIES
    MeSH
    Blepharophimosis
    Child, Preschool
    Congenital Hypothyroidism
    Craniofacial Abnormalities
    DNA Mutational Analysis
    Diagnosis, Differential
    Exome
    Exons
    Facies
    Female
    Gene Expression
    Genetic Association Studies
    Genotype
    Heart Defects, Congenital
    Histone Acetyltransferases
    Humans
    Intellectual Disability
    Joint Instability
    Kidney
    Male
    Mutation
    Patella
    Phenotype
    Psychomotor Disorders
    Scrotum
    Severity of Illness Index
    Urogenital Abnormalities
    Show allShow less
    
    Metadata
    Show full item record
    Citation
    Further delineation of the KAT6B molecular and phenotypic spectrum. 2015, 23 (9):1165-70 Eur. J. Hum. Genet.
    Publisher
    Nature Publishing Group
    Journal
    European journal of human genetics : EJHG
    URI
    http://hdl.handle.net/10147/620599
    DOI
    10.1038/ejhg.2014.248
    PubMed ID
    25424711
    Additional Links
    https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4351891/
    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.
    Item Type
    Article
    Language
    en
    ISSN
    1476-5438
    ae974a485f413a2113503eed53cd6c53
    10.1038/ejhg.2014.248
    Scopus Count
    Collections
    Children's Health Ireland (CHI) at Crumlin

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