印度因基因中的一种新型致病变异导致的α-甘露糖苷贮积症。
Alpha-Mannosidosis from India due to a Novel Pathogenic Variant in Gene.
作者信息
Gowda Vykuntaraju Kammasandra, Srinivasan Varunvenkat M, Sardesai Ashwin V, Shivappa Sanjay K
机构信息
Department of Pediatric Neurology, Indira Gandhi Institute of Child Health, Bengaluru, Karnataka, India.
Department Pediatric Medicine, Indira Gandhi Institute of Child Health, Bengaluru, Karnataka, India.
出版信息
J Pediatr Neurosci. 2021 Jul-Sep;16(3):249-251. doi: 10.4103/jpn.JPN_71_20. Epub 2021 Jul 12.
Alpha-mannosidosis is a lysosomal storage disorder caused by mutations in gene. A 7-year-old girl child, born of a consanguineous marriage, presented with developmental delay, seizures, and hearing impairment. On examination, she had coarse features without hepatosplenomegaly. On investigations, low levels of the enzyme alpha-mannosidase level were observed. Targeted next-generation sequencing revealed a novel pathogenic variant p.Trp469Ter on exon 11 of gene.
α-甘露糖苷贮积症是一种由基因 突变引起的溶酶体贮积病。一名7岁女童，系近亲结婚所生，出现发育迟缓、癫痫发作和听力障碍。检查时，她面容粗糙但无肝脾肿大。检查发现，α-甘露糖苷酶水平较低。靶向二代测序在 基因第11外显子上发现了一个新的致病变异p.Trp469Ter。
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