| Title | Biallelic variants in KIF14 cause intellectual disability with microcephaly. |
| Publication Type | Journal Article |
| Year of Publication | 2018 |
| Authors | Makrythanasis, P, Maroofian, R, Stray-Pedersen, A, Musaev, D, Zaki, MS, Mahmoud, IG, Selim, L, Elbadawy, A, Jhangiani, SN, Akdemir, ZHCoban, Gambin, T, Sorte, HS, Heiberg, A, McEvoy-Venneri, J, James, KN, Stanley, V, Belandres, D, Guipponi, M, Santoni, FA, Ahangari, N, Tara, F, Doosti, M, Iwaszkiewicz, J, Zoete, V, Backe, PHoff, Hamamy, H, Gleeson, JG, Lupski, JR, Karimiani, EGhayoor, Antonarakis, SE |
| Journal | Eur J Hum Genet |
| Volume | 26 |
| Issue | 3 |
| Pagination | 330-339 |
| Date Published | 2018 03 |
| ISSN | 1476-5438 |
| Keywords | Child, Child, Preschool, Female, Humans, Intellectual Disability, Kinesin, Loss of Function Mutation, Microcephaly, Mutation, Missense, Oncogene Proteins, Pedigree, Phenotype, Protein Domains, Syndrome |
| 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. |
| DOI | 10.1038/s41431-017-0088-9 |
| Alternate Journal | Eur J Hum Genet |
| PubMed ID | 29343805 |
| PubMed Central ID | PMC5839044 |
| Grant List | UM1 HG008900 / HG / NHGRI NIH HHS / United States / HHMI / Howard Hughes Medical Institute / United States |