Fiche du document
- doi: 10.1038/s41431-017-0088-9
- issn: 1018-4813
Ce document est lié à :
info:eu-repo/semantics/altIdentifier/doi/10.1038/s41431-017-0088-9
Ce document est lié à :
info:eu-repo/semantics/altIdentifier/pmid/29343805
Ce document est lié à :
info:eu-repo/semantics/altIdentifier/eissn/1476-5438
Ce document est lié à :
info:eu-repo/semantics/altIdentifier/urn/urn:nbn:ch:serval-BIB_C00D344B1BA28
info:eu-repo/semantics/openAccess , Copying allowed only for non-profit organizations , https://serval.unil.ch/disclaimer
Sujets proches
Microcephalism MicrocephaliaCiter ce document
P. Makrythanasis et al., « Biallelic variants in KIF14 cause intellectual disability with microcephaly. », Serveur académique Lausannois, ID : 10.1038/s41431-017-0088-9
Métriques
Partage / Export
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.