期刊
JOURNAL OF GENETICS
卷 99, 期 1, 页码 -出版社
INDIAN ACAD SCIENCES
DOI: 10.1007/s12041-020-01198-7
关键词
cognitive impairment; Miglustat; missense mutation; Niemann-Pick disease type C; NPC1 gene
资金
- Italian Ministry of Health -Ricerca Corrente
Niemann-Pick disease type C (NPC) is a progressive lysosomal storage disorder caused by mutations in the NPC1 (in 95% of cases) or NPC2 (in similar to 5% of cases) genes, inherited in an autosomal recessive manner. We report the case of a 38-year-old woman with learning disorder from her first year of schooling, and could notice slow progressed cognitive impairment, social withdrawal, apathy, handwriting alterations, deterioration of language skills and dysphagia. Brain magnetic resonance imaging showed severe cerebellar atrophy, hypoplasia of the corpus callosum, asymmetric lateral ventricular enlargement, and severe enlargement of frontal and parietal subarachnoid spaces. Next generation sequencing for NPC genes (NPC1 and NPC2) detected compound heterozygous mutations in NPC1 gene, including c.1553G > A (p.Arg518Gln), paternally inherited, and c.1270C > T (p.Pro424Ser) maternally inherited. The first mutation has been already described in literature and correlated to NPC, while the second mutation is still unknown. Moreover, filipin test and quantification of plasma oxysterols confirmed NPC diagnosis. We can suggest the missense mutation c.1270C > T (p.Pro424Ser) as a new causative mutation of NPC.
作者
我是这篇论文的作者
点击您的名字以认领此论文并将其添加到您的个人资料中。
推荐
暂无数据