Platzer Konrad, Hüning Irina, Obieglo Carolin, Schwarzmayr Thomas, Gabriel Rainer, Strom Tim M, Gillessen-Kaesbach Gabriele, Kaiser Frank J
Institut für Humangenetik, Universität zu Lübeck, Lübeck, Germany.
Am J Med Genet A. 2014 Aug;164A(8):1976-80. doi: 10.1002/ajmg.a.36592. Epub 2014 May 5.
In patients with genetically heterogeneous disorders such as intellectual disability or epilepsy, exome sequencing is a powerful tool to elucidate the underlying genetic cause. Homozygous and compound heterozygous mutations in C12orf57 have recently been described to cause an autosomal recessive syndromic form of intellectual disability, including agenesis/hypoplasia of the corpus callosum, optic coloboma, and intractable seizures. Here, we report on two siblings from nonconsanguineous parents harboring two compound heterozygous loss-of-function mutations in C12orf57 identified by exome sequencing, including a novel nonsense mutation, and review the patients described in the literature.
在患有智力障碍或癫痫等基因异质性疾病的患者中，外显子组测序是阐明潜在遗传病因的有力工具。最近有报道称，C12orf57基因的纯合和复合杂合突变会导致一种常染色体隐性综合征型智力障碍，包括胼胝体发育不全/发育不良、视神经缺损和难治性癫痫。在此，我们报告了一对非近亲父母的兄弟姐妹，通过外显子组测序在他们身上发现了C12orf57基因的两个复合杂合功能丧失突变，其中包括一个新的无义突变，并对文献中描述的患者进行了综述。
