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Clinical and whole-exome sequencing findings in two siblings from Hani ethnic minority with congenital glycosylation disorders

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机构: [1]Department of Human Anatomy, Zhongshan School of Medicine, Sun Yat-Sen University, Guangzhou, 510080, People's Republic of China. [2]Yunnan Key Laboratory of Children's Major Disease Research, and Yunnan Institute of Pediatrics, Kunming Children's Hospital, Kunming, 650228, Yunnan, China. [3]Department of Hematology, Kunming Children's Hospital, Kunming Medical University, Kunming, Yunnan, 650228, People's Republic of China. [4]Department of Otolaryngology-Head and Neck Surgery, Kunming Children's Hospital, Kunming Medical University, Kunming, Yunnan, 650228, People's Republic of China
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关键词: Novel variants PMM2-CDG Children Hani ethnic minority

摘要:
PMM2-CDG, is the most common N-linked glycosylation disorder and subtype among all CDG syndromes, which are a series of genetic disorders involving the synthesis and attachment of glycoproteins and glycolipid glycans. The mutations of PMM2-CDG might lead to the loss of PMM2, which is responsible for the conversion of mannose 6- phosphate into mannose 1-phosphate. Most patients with PMM2-CDG have central nervous system involvement, abnormal coagulation, and hepatopathy. The neurological symptoms of PMM2-CDG are intellectual disability (ID), cerebellar ataxia, and peripheral neuropathy. Now, over 100 new CDG cases have been reported. However, each type of CDG is very rare, and CDGs are problematic to diagnose. In addition, few CDGs have been reported in the Chinese population.Here we present a Hani ethnic minority family including two siblings with congenital glycosylation disorders. Whole-exome sequencing revealed compound heterozygous for one novel mutation (c.241-242 del variant) and previously reported mutation (c.395 T > C) in gene of PMM2. Two mutations were found in proband and her sibling by whole-exome sequencing. The mutations were identified in this family by Sanger sequencing and no mutations were detected in the normal control.This is the first report to describe mutations in two siblings of Hani ethnic minority which is one of five ethnic groups found only in Yunnan with a population of more than 1 million.

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出版当年[2019]版:
大类 | 4 区 医学
小类 | 4 区 遗传学
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第一作者机构: [1]Department of Human Anatomy, Zhongshan School of Medicine, Sun Yat-Sen University, Guangzhou, 510080, People's Republic of China. [2]Yunnan Key Laboratory of Children's Major Disease Research, and Yunnan Institute of Pediatrics, Kunming Children's Hospital, Kunming, 650228, Yunnan, China.
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