Identification of a Rare Exon 19 Skipping Mutation in ALMS1 Gene in Alström Syndrome Patients From Two Unrelated Saudi Families

Identification of a Rare Exon 19 Skipping Mutation in ALMS1 Gene in Alström Syndrome Patients From Two Unrelated Saudi Families

Background: Alström syndrome (AS) is a very rare childhood disorder characterized by cardiomyopathy, progressive hearing loss and blindness. Inherited genetic variants of ALMS1 gene are the known molecular cause of this disease. The objective of this study was to characterize the genetic basis and u...

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Bibliographic Details
Main Authors: Omar I. Saadah, Babajan Banaganapalli, Naglaa M. Kamal, Ahmed N. Sahly, Hadeel A. Alsufyani, Arif Mohammed, Aftab Ahmad, Khalidah Khalid Nasser, Jumana Y. Al-Aama, Noor Ahmad Shaik, Ramu Elango
Format: Article
Language:English
Published: Frontiers Media S.A. 2021-04-01
Series:Frontiers in Pediatrics
Subjects:
Alström syndrome
ALMS1
splice site mutation
rare variant
Saudi Arabia
Online Access:https://www.frontiersin.org/articles/10.3389/fped.2021.652011/full

Internet

https://www.frontiersin.org/articles/10.3389/fped.2021.652011/full

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