Further delineation of the clinical spectrum of KAT6B disorders and allelic series of pathogenic variants.
Обработка статьи · этапы, ошибки и управление
Ошибки и ограничения
История · было → стало
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Zhang Li Xin, Lemire Gabrielle, Gonzaga-Jauregui Claudia, Molidperee Sirinart, Galaz-Montoya Carolina, Liu David S, Verloes Alain, Shillington Amelle G, Izumi Kosuke, Ritter Alyssa L, Keena Beth, Zackai Elaine, Li Dong, Bhoj Elizabeth, Tarpinian Jennifer M, Bedoukian Emma, Kukolich Mary K, Innes A Micheil, Ediae Grace U, Sawyer Sarah L, Nair Karippoth Mohandas, Soumya Para Chottil, Subbaraman Kinattinkara R, Probst Frank J, Bassetti Jennifer A, Sutton Reid V, Gibbs Richard A, Brown Chester, Boone Philip M, Holm Ingrid A, Tartaglia Marco, Ferrero Giovanni Battista, Niceta Marcello, Dentici Maria Lisa, Radio Francesca Clementina, Keren Boris, Wells Constance F, Coubes Christine, Laquerrière Annie, Aziza Jacqueline, Dubucs Charlotte, Nampoothiri Sheela, Mowat David, Patel Millan S, Bracho Ana, Cammarata-Scalisi Francisco, Gezdirici Alper, Fernandez-Jaen Alberto, Hauser Natalie, Zarate Yuri A, Bosanko Katherine A, Dieterich Klaus, Carey John C, Chong Jessica X, Nickerson Deborah A, Bamshad Michael J, Lee Brendan H, Yang Xiang-Jiao, Lupski James R, Campeau Philippe M
Аннотация
METHODS: We herein present the phenotypes of 32 previously unreported individuals with a molecularly confirmed diagnosis of a KAT6B disorder, report 24 new pathogenic KAT6B variants, and review phenotypic information available on all published individuals with this condition. We also suggest a classification of clinical subtypes within the KAT6B disorder spectrum.
RESULTS: We demonstrate that cerebral anomalies, optic nerve hypoplasia, neurobehavioral difficulties, and distal limb anomalies other than long thumbs and great toes, such as polydactyly, are more frequently observed than initially reported. Intestinal malrotation and its serious consequences can be present in affected individuals. Additionally, we identified four children with Pierre Robin sequence, four individuals who had increased nuchal translucency/cystic hygroma prenatally, and two fetuses with severe renal anomalies leading to renal failure. We also report an individual in which a pathogenic variant was inherited from a mildly affected parent.
CONCLUSION: Our work provides a comprehensive review and expansion of the genotypic and phenotypic spectrum of KAT6B disorders that will assist clinicians in the assessment, counseling, and management of affected individuals.