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

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

Atypical Gaucher disease is caused by variants in the <i>PSAP</i> 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....

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Bibliographic Details
Main Authors: Khurram Liaqat, Shabir Hussain, Anushree Acharya, Abdul Nasir, Thashi Bharadwaj, Muhammad Ansar, Sulman Basit, Isabelle Schrauwen, Wasim Ahmad, Suzanne M. Leal
Format: Article
Language:English
Published: MDPI AG 2022-04-01
Series:Genes
Subjects:
atypical Gaucher disease
hearing impairment
exome sequencing
saposin C
Online Access:https://www.mdpi.com/2073-4425/13/4/662

Internet

https://www.mdpi.com/2073-4425/13/4/662

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