European journal of human genetics : EJHG · 2018
Biallelic variants in KIF14 cause intellectual disability with microcephaly.
Клинический случайСтатьяПоддержка NIH: внешняя программаПоддержка исследования: вне правительства СШАНазвание и аннотация: Перевод в очереди
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Makrythanasis Periklis, Maroofian Reza, Stray-Pedersen Asbjørg, Musaev Damir, Zaki Maha S, Mahmoud Iman G, Selim Laila, Elbadawy Amera, Jhangiani Shalini N, Coban Akdemir Zeynep H, Gambin Tomasz, Sorte Hanne S, Heiberg Arvid, McEvoy-Venneri Jennifer, James Kiely N, Stanley Valentina, Belandres Denice, Guipponi Michel, Santoni Federico A, Ahangari Najmeh, Tara Fatemeh, Doosti Mohammad, Iwaszkiewicz Justyna, Zoete Vincent, Backe Paul Hoff, Hamamy Hanan, Gleeson Joseph G, Lupski James R, Karimiani Ehsan Ghayoor, Antonarakis Stylianos E
Аннотация
Kinesin proteins are critical for various cellular functions such as intracellular transport and cell division, and many members of the family have been linked to monogenic disorders and cancer. We report eight individuals with intellectual disability and microcephaly from four unrelated families with parental consanguinity. In the affected individuals of each family, homozygosity for likely pathogenic variants in KIF14 were detected; two loss-of-function (p.Asn83Ilefs*3 and p.Ser1478fs), and two missense substitutions (p.Ser841Phe and p.Gly459Arg). KIF14 is a mitotic motor protein that is required for spindle localization of the mitotic citron rho-interacting kinase, CIT, also mutated in microcephaly. Our results demonstrate the involvement of KIF14 in development and reveal a wide phenotypic variability ranging from fetal lethality to moderate developmental delay and microcephaly.