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首页> 外文期刊>American journal of medical genetics, Part A >A novel missense mutation in the NSDHL gene identified in a Lithuanian family by targeted next-generation sequencing causes CK syndrome
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A novel missense mutation in the NSDHL gene identified in a Lithuanian family by targeted next-generation sequencing causes CK syndrome

机译：通过靶向下一代测序在立陶宛家庭中鉴定出的NSDHL基因中的新型错义突变导致CK综合征

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摘要

The NSDHL gene encodes 3-hydroxysteroid dehydrogenase involved in one of the later steps of the cholesterol biosynthetic pathway. Mutations in this gene can cause CHILD syndrome (OMIM 308050) and CK syndrome (OMIM 300831). CHILD syndrome is an X-linked dominant, male lethal disorder caused by mutations in the NSDHL gene that result in the loss of the function of the NSDHL protein. CK syndrome is an allelic X-linked recessive disorder. So far, 13 patients with CK syndrome from two families have been reported on. We present a new five-generation family with affected males manifesting clinical features of CK syndrome. Next generation sequencing was targeted to a custom panel of 542 genes with known or putative implication on intellectual disability. Missense mutation p.Gly152Asp was identified in the NSDHL gene in the DNA sample of the affected male. Mutation carrier status was confirmed for all the obligate carriers in the family. The clinical features of the affected males in the family manifested as weak fetal movements, severe intellectual disability, seizures, spasticity, atrophy of optic discs, microcephaly, plagiocephaly, skeletal abnormalities, and minor facial anomalies, including a high nasal bridge, strabismus, and micrognathia. A highly significant preferential transmission of the mutation was observed in this and previous families segregating CK syndrome. Our report expands the clinical spectrum of this syndrome to include weak fetal movements, spasticity, and plagiocephaly, and transmission ratio distortion. The various findings in these patients increase our understanding of the diversity of the clinical presentation of cholesterol biosynthesis disorders. (c) 2015 Wiley Periodicals, Inc.
机译：NSDHL基因编码参与胆固醇生物合成途径的后续步骤之一的3-羟基类固醇脱氢酶。此基因的突变可导致儿童综合症（OMIM 308050）和CK综合征（OMIM 300831）。 CHILD综合征是由NSDHL基因突变引起的X连锁显性男性致死性疾病，导致NSDHL蛋白功能丧失。 CK综合症是等位基因X连锁隐性疾病。迄今为止，已经报道了来自两个家庭的13例CK综合征患者。我们提出了一个新的五代家庭，其中受影响的男性表现出CK综合征的临床特征。下一代测序的目标是定制的542个基因组，它们对智力残疾具有已知或推定的含义。在患病男性DNA样品的NSDHL基因中鉴定出了错义突变p.Gly152Asp。该家族中所有专性携带者的突变携带者身份得到确认。受影响的男性家庭的临床特征表现为胎儿运动弱，严重的智力障碍，癫痫发作，痉挛，视盘萎缩，小头畸形，斜头畸形，骨骼异常和轻微的面部异常，包括高鼻梁，斜视和微棘皮症。在隔离CK综合征的这个家族和以前的家族中，观察到突变的高度显着的优先传播。我们的报告扩大了该综合征的临床范围，包括弱势的胎儿运动，痉挛和斜脑畸形以及传播比率畸变。这些患者的各种发现增加了我们对胆固醇生物合成疾病临床表现多样性的认识。 （c）2015年威利期刊有限公司

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