Article
KIAA1109 Variants Are Associated with a Severe Disorder of Brain Development and Arthrogryposis.
American journal of human genetics - 4 Jan 2018
Gueneau Lucie, Fish Richard J, Shamseldin Hanan E, Voisin Norine, Tran Mau-Them Frédéric, Preiksaitiene Egle, Monroe Glen R, Lai Angeline, Putoux Audrey, Allias Fabienne, Ambusaidi Qamariya, Ambrozaityte Laima, Cimbalistienė Loreta, Delafontaine Julien, Guex Nicolas, Hashem Mais, Kurdi Wesam, Jamuar Saumya Shekhar, Ying Lim J, Bonnard Carine, Pippucci Tommaso, Pradervand Sylvain, Roechert Bernd, van Hasselt Peter M, Wiederkehr Michaël, Wright Caroline F, Xenarios Ioannis, van Haaften Gijs, Shaw-Smith Charles, Schindewolf Erica M, Neerman-Arbez Marguerite, Sanlaville Damien, Lesca Gaëtan, Guibaud Laurent, Reversade Bruno, Chelly Jamel, Kučinskas Vaidutis, Alkuraya Fowzan S, Reymond Alexandre
Abstract excerpt
Whole-exome and targeted sequencing of 13 individuals from 10 unrelated families with overlapping clinical manifestations identified loss-of-function and missense variants in KIAA1109 allowing delineation of an autosomal-recessive multi-system syndrome, which we suggest to name Alkuraya-Kučinskas syndrome (MIM 617822). Shared phenotypic features representing the cardinal characteristics of this syndrome combine...
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