Deep sequencing of SMPD1 gene revealed a heterozygous frameshift mutation (p.Ser192Alafs) in a Palestinian infant with Niemann–Pick disease type A: a case report

Deep sequencing of SMPD1 gene revealed a heterozygous frameshift mutation (p.Ser192Alafs) in a Palestinian infant with Niemann–Pick disease type A: a case report

Abstract Background Niemann–Pick disease is caused by reduced level of the lysosomal enzyme acid sphingomyelinase. Children can survive between 2 and 12 years based on the disease type. Two main types are well known: type A and B. Niemann–Pick disease type A is characterized by severe central nervou...

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Bibliographic Details
Main Authors: Abedelmajeed Nasereddin, Suheir Ereqat
Format: Article
Language:English
Published: BMC 2018-09-01
Series:Journal of Medical Case Reports
Subjects:
Sphingomyelinase deficiency
Niemann–Pick disease type A
Mutation
Palestinian child
Online Access:http://link.springer.com/article/10.1186/s13256-018-1805-x

Internet

http://link.springer.com/article/10.1186/s13256-018-1805-x

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