Biallelic variants in KIF14 cause intellectual disability with microcephaly.

Détails

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Etat: Public
Version: de l'auteur⸱e
ID Serval
serval:BIB_C00D344B1BA2
Type
Article: article d'un périodique ou d'un magazine.
Collection
Publications
Institution
Titre
Biallelic variants in KIF14 cause intellectual disability with microcephaly.
Périodique
European journal of human genetics
Auteur⸱e⸱s
Makrythanasis P., Maroofian R., Stray-Pedersen A., Musaev D., Zaki M.S., Mahmoud I.G., Selim L., Elbadawy A., Jhangiani S.N., Coban Akdemir Z.H., Gambin T., Sorte H.S., Heiberg A., McEvoy-Venneri J., James K.N., Stanley V., Belandres D., Guipponi M., Santoni F.A., Ahangari N., Tara F., Doosti M., Iwaszkiewicz J., Zoete V., Backe P.H., Hamamy H., Gleeson J.G., Lupski J.R., Karimiani E.G., Antonarakis S.E.
ISSN
1476-5438 (Electronic)
ISSN-L
1018-4813
Statut éditorial
Publié
Date de publication
03/2018
Peer-reviewed
Oui
Volume
26
Numéro
3
Pages
330-339
Langue
anglais
Notes
Publication types: Case Reports ; Journal Article ; Research Support, N.I.H., Extramural ; Research Support, Non-U.S. Gov't
Publication Status: ppublish
Résumé
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.
Mots-clé
Child, Child, Preschool, Female, Humans, Intellectual Disability/genetics, Intellectual Disability/pathology, Kinesin/chemistry, Kinesin/genetics, Kinesin/metabolism, Loss of Function Mutation, Microcephaly/genetics, Microcephaly/pathology, Mutation, Missense, Oncogene Proteins/chemistry, Oncogene Proteins/genetics, Oncogene Proteins/metabolism, Pedigree, Phenotype, Protein Domains, Syndrome
Pubmed
Web of science
Open Access
Oui
Création de la notice
22/01/2019 12:14
Dernière modification de la notice
25/02/2020 18:52
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