Ontology highlight
ABSTRACT:
SUBMITTER: Makrythanasis P
PROVIDER: S-EPMC5839044 | biostudies-literature | 2018 Mar
REPOSITORIES: biostudies-literature
European journal of human genetics : EJHG 20180117 3
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 tw ...[more]