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    KAT6A Syndrome: genotype-phenotype correlation in 76 patients with pathogenic KAT6A variants.

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    Authors
    Kennedy, Joanna
    Goudie, David
    Blair, Edward
    Chandler, Kate
    Joss, Shelagh
    McKay, Victoria
    Green, Andrew
    Armstrong, Ruth
    Lees, Melissa
    Kamien, Benjamin
    Hopper, Bruce
    Tan, Tiong Yang
    Yap, Patrick
    Stark, Zornitza
    Okamoto, Nobuhiko
    Miyake, Noriko
    Matsumoto, Naomichi
    Macnamara, Ellen
    Murphy, Jennifer L
    McCormick, Elizabeth
    Hakonarson, Hakon
    Falk, Marni J
    Li, Dong
    Blackburn, Patrick
    Klee, Eric
    Babovic-Vuksanovic, Dusica
    Schelley, Susan
    Hudgins, Louanne
    Kant, Sarina
    Isidor, Bertrand
    Cogne, Benjamin
    Bradbury, Kimberley
    Williams, Mark
    Patel, Chirag
    Heussler, Helen
    Duff-Farrier, Celia
    Lakeman, Phillis
    Scurr, Ingrid
    Kini, Usha
    Elting, Mariet
    Reijnders, Margot
    Schuurs-Hoeijmakers, Janneke
    Wafik, Mohamed
    Blomhoff, Anne
    Ruivenkamp, Claudia A L
    Nibbeling, Esther
    Dingemans, Alexander J M
    Douine, Emilie D
    Nelson, Stanley F
    Arboleda, Valerie A
    Newbury-Ecob, Ruth
    Show allShow less
    Issue Date
    2018-09-24
    Keywords
    KAT6A syndrome; chromatin modifiers; intellectual disability
    genetic diagnosis
    phenotypic spectrum
    INTELLECTUAL DISABILITIES
    DEVELOPMENTAL DELAY
    
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    Show full item record
    Journal
    Genetics in medicine : official journal of the American College of Medical Genetics
    URI
    http://hdl.handle.net/10147/627191
    DOI
    10.1038/s41436-018-0259-2
    PubMed ID
    30245513
    Abstract
    Purpose: Pathogenic variants in KAT6A have recently been identified as a cause of syndromic developmental delay. Within 2 years, the number of patients identified with pathogenic KAT6A variants has rapidly expanded and the full extent and variability of the clinical phenotype has not been reported. Methods: We obtained data for patients with KAT6A pathogenic variants through three sources: treating clinicians, an online family survey distributed through social media, and a literature review. Results: We identified 52 unreported cases, bringing the total number of published cases to 76. Our results expand the genotypic spectrum of pathogenic variants to include missense and splicing mutations. We functionally validated a pathogenic splice-site variant and identified a likely hotspot location for de novo missense variants. The majority of clinical features in KAT6A syndrome have highly variable penetrance. For core features such as intellectual disability, speech delay, microcephaly, cardiac anomalies, and gastrointestinal complications, genotype- phenotype correlations show that late-truncating pathogenic variants (exons 16-17) are significantly more prevalent. We highlight novel associations, including an increased risk of gastrointestinal obstruction. Conclusion: Our data expand the genotypic and phenotypic spectrum for individuals with genetic pathogenic variants in KAT6A and we outline appropriate clinical management.
    Item Type
    Article
    Language
    en
    EISSN
    1530-0366
    ae974a485f413a2113503eed53cd6c53
    10.1038/s41436-018-0259-2
    Scopus Count
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    Children's Health Ireland (CHI) at Crumlin

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