An uncommon inheritance pattern in Niemann-Pick disease type C: identification of probable paternal germline mosaicism in a Mexican family.

ABSTRACT:

Background

Niemann-Pick disease type C (NP-C) is a fatal lysosomal neurodegenerative and neurovisceral disease. It is caused by defects in intracellular lipid trafficking, which lead to the accumulation of lipids and glycosphingolipids within the endosomes and lysosomes of affected individuals. Pathogenic variants of the NPC1 or NPC2 genes yield highly variable phenotypes with a time course that ranges from fetal onset (i.e., hydrops fetalis) to progressive dementia in adults. NP-C is typically inherited in an autosomal-recessive manner. To our knowledge, no previous report has identified germline mosaicism as an inheritance mechanism in NP-C.

Case presentation

We report the case of a male Mexican patient with "variant" filipin staining and a juvenile form of NP-C attributed

SUBMITTER: Cervera-Gaviria M 

PROVIDER: S-EPMC4994172 | biostudies-literature | 2016 Aug

REPOSITORIES: biostudies-literature