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Phenotype Expansion for Atypical Gaucher Disease Due to Homozygous Missense PSAP Variant in a Large Consanguineous Pakistani Family.

Genes - 9 Apr 2022

Liaqat Khurram, Hussain Shabir, Acharya Anushree, Nasir Abdul, Bharadwaj Thashi, Ansar Muhammad, Basit Sulman, Schrauwen Isabelle, Ahmad Wasim, Leal Suzanne M

Abstract excerpt

Atypical Gaucher disease is caused by variants in the PSAP gene. Saposin C is one of four homologous proteins derived from sequential cleavage of the saposin precursor protein, prosaposin. It is an essential activator for glucocerebrosidase, which is deficient in Gaucher disease. Although atypical Gaucher disease due to deficiency of saposin C is rare, it exhibits vast phenotypic heterogeneity. Here, we report on...

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Identifiers

PMID: 35456468
DOI: 10.3390/genes13040662
PMCID: PMC9028228

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