NPC1 基因新型复合杂合突变与尼曼-匹克病 C 型相关：病例报告及文献复习。
Novel compound heterozygous mutations of the NPC1 gene associated with Niemann-pick disease type C: a case report and review of the literature.
机构信息
Department of Internal Medicine, Shijiazhuang Ping'an Hospital, Hebei Medical University, Shijiazhuang, Hebei, China.
Hebei Provincial Center for Clinical Laboratories, The Second Hospital of Hebei Medical University, Shijiazhuang, Hebei, China.
出版信息
BMC Infect Dis. 2024 Jan 30;24(1):145. doi: 10.1186/s12879-024-09025-5.
BACKGROUND
Niemann-Pick Disease type C is a fatal autosomal recessive lipid storage disorder caused by NPC1 or NPC2 gene mutations and characterized by progressive, disabling neurological deterioration and hepatosplenomegaly. Herein, we identified a novel compound heterozygous mutations of the NPC1 gene in a Chinese pedigree.
CASE PRESENTATION
This paper describes an 11-year-old boy with aggravated walking instability and slurring of speech who presented as Niemann-Pick Disease type C. He had the maternally inherited c.3452 C > T (p. Ala1151Val) mutation and the paternally inherited c.3557G > A (p. Arg1186His) mutation using next-generation sequencing. The c.3452 C > T (p. Ala1151Val) mutation has not previously been reported.
CONCLUSIONS
This study predicted that the c.3452 C > T (p. Ala1151Val) mutation is pathogenic. This data enriches the NPC1 gene variation spectrum and provides a basis for familial genetic counseling and prenatal diagnosis.
背景
尼曼-匹克病 C 型是一种致命的常染色体隐性脂质贮积症，由 NPC1 或 NPC2 基因突变引起，其特征为进行性、致残性神经恶化和肝脾肿大。在此，我们在一个中国家系中鉴定出 NPC1 基因的一种新型复合杂合突变。
病例介绍
本文描述了一名 11 岁男孩，行走不稳加重，言语含糊，被诊断为尼曼-匹克病 C 型。他携带母系遗传的 c.3452C>T(p.Ala1151Val)突变和父系遗传的 c.3557G>A(p.Arg1186His)突变，使用下一代测序技术进行鉴定。c.3452C>T(p.Ala1151Val)突变此前尚未报道。
结论
本研究预测 c.3452C>T(p.Ala1151Val)突变是致病性的。该数据丰富了 NPC1 基因突变谱，为家族遗传咨询和产前诊断提供了依据。
Zotero 插件