Skip to main content

Biallelic variants in KIF14 cause intellectual disability with microcephaly.

Author
Abstract
:

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.

Year of Publication
:
2018
Journal
:
European journal of human genetics : EJHG
Date Published
:
2018
ISSN Number
:
1018-4813
URL
:
http://dx.doi.org/10.1038/s41431-017-0088-9
DOI
:
10.1038/s41431-017-0088-9
Short Title
:
Eur J Hum Genet
Download citation