Mutations in SPATA5 Are Associated with Microcephaly, Intellectual Disability, Seizures, and Hearing Loss
Mutations in SPATA5 Are Associated with Microcephaly, Intellectual Disability, Seizures, and Hearing Loss
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DOI：
10.1016/j.ajhg.2015.07.014
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发表时间：
2015-09-03
影响因子：
9.8
通讯作者：
Chung, Wendy K.
中科院分区：
文献类型：
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作者：
Tanaka, Akemi J.;Cho, Megan T.;Chung, Wendy K.
使用全外显子组测序，我们已经确定了10个家庭14个个体与小头畸形，发育迟缓，智力残疾，张力减退，痉挛，癫痫发作，感音神经性听力损失，皮质视力障碍，和罕见的常染色体隐性遗传预测致病变异的精子发生相关蛋白5（SPATA 5）。SPATA 5编码一个广泛表达的ATP酶相关的多样性活动（AAA）蛋白家族的成员，并参与早期精子发生过程中的线粒体形态发生。它也可能在神经元发育的细胞分化过程中的翻译后修饰中发挥作用。SPATA 5突变可能影响大脑发育和功能，导致小头畸形、发育迟缓和智力残疾。
Using whole-exome sequencing, we have identified in ten families 14 individuals with microcephaly, developmental delay, intellectual disability, hypotonia, spasticity, seizures, sensorineural hearing loss, cortical visual impairment, and rare autosomal-recessive predicted pathogenic variants in spermatogenesis-associated protein 5 (SPATA5). SPATA5 encodes a ubiquitously expressed member of the ATPase associated with diverse activities (AAA) protein family and is involved in mitochondrial morphogenesis during early spermatogenesis. It might also play a role in post-translational modification during cell differentiation in neuronal development. Mutations in SPATA5 might affect brain development and function, resulting in microcephaly, developmental delay, and intellectual disability.