Biallelic variants in KIF14 cause intellectual disability with microcephaly.
Biallelic variants in KIF14 cause intellectual disability with microcephaly.
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DOI：
10.1038/s41431-017-0088-9
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发表时间：
2018-03
期刊：
影响因子：
--
通讯作者：
Antonarakis SE
中科院分区：
文献类型：
--
作者：
Makrythanasis P;Maroofian R;Stray-Pedersen A;Musaev D;Zaki MS;Mahmoud IG;Selim L;Elbadawy A;Jhangiani SN;Coban Akdemir ZH;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 PH;Hamamy H;Gleeson JG;Lupski JR;Karimiani EG;Antonarakis SE
驱动蛋白对于细胞内转运和细胞分裂等多种细胞功能至关重要，该家族的许多成员与单基因疾病和癌症有关。我们报告八个人智力残疾和小头畸形的四个无关的家庭与父母的血缘关系。在每个家族的受影响个体中，检测到KIF 14中可能的致病性变体的纯合性;两个功能丧失（p.Asn83Ilefs*3和p.Ser1478fs）和两个错义取代（p.Ser841Phe和p.Gly459Arg）。KIF 14是一种有丝分裂马达蛋白，其是有丝分裂柠檬rho相互作用激酶（CIT）的纺锤体定位所需的，CIT也在小头畸形中突变。我们的研究结果表明KIF 14参与发育，并揭示了广泛的表型变异，从胎儿致死到中度发育迟缓和小头畸形。
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.
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影响因子：
3.7
作者：
Fujikura K;Setsu T;Tanigaki K;Abe T;Kiyonari H;Terashima T;Sakisaka T
通讯作者：
Sakisaka T
影响因子：
3
作者：
Reid JG;Carroll A;Veeraraghavan N;Dahdouli M;Sundquist A;English A;Bainbridge M;White S;Salerno W;Buhay C;Yu F;Muzny D;Daly R;Duyk G;Gibbs RA;Boerwinkle E
通讯作者：
Boerwinkle E
影响因子：
5.6
作者：
Arora, Kritica;Talje, Lama;Kwok, Benjamin H.
通讯作者：
Kwok, Benjamin H.
影响因子：
3.7
作者：
LoTurco, JJ;Sarkisian, MR;Bai, JL
通讯作者：
Bai, JL
影响因子：
11.5
作者：
Corson, Timothy W.;Zhu, Chang Qi;Gallie, Brenda L.
通讯作者：
Gallie, Brenda L.