Case Report: Reinterpretation and Reclassification of ARSB:p.Arg159Cys Variant Identified in an Emirati Patient With Hearing Loss Caused by a Pathogenic Variant in the CDH23 Gene

Case Report: Reinterpretation and Reclassification of ARSB:p.Arg159Cys Variant Identified in an Emirati Patient With Hearing Loss Caused by a Pathogenic Variant in the CDH23 Gene

Arylsulfatase B is an enzyme present in the lysosomes that involves in the breakdown of large sugar molecules known as glycosaminoglycans (GAGs). Arylsulfatase B chemically modifies two GAGs, namely, dermatan sulfate and chondroitin sulfate, by removing the sulfate group. Mutations in the gene encod...

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Bibliographic Details
Main Authors: Nahid Al Dhahouri, Amanat Ali, Jozef Hertecant, Fatma Al-Jasmi
Format: Article
Language:English
Published: Frontiers Media S.A. 2022-02-01
Series:Frontiers in Pediatrics
Subjects:
arylsulfatase B
glycosaminoglycans
non-syndromic hearing loss
Cdh23
whole exome sequencing
Online Access:https://www.frontiersin.org/articles/10.3389/fped.2021.803732/full

Internet

https://www.frontiersin.org/articles/10.3389/fped.2021.803732/full

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