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

Frontiers in Pediatrics

Arif Mohammed¹  Aftab Ahmad²  Naglaa M. Kamal³  Hadeel A. Alsufyani⁴  Ramu Elango⁵  Noor Ahmad Shaik⁵  Babajan Banaganapalli⁵  Jumana Y. Al-Aama⁵  Khalidah Khalid Nasser⁶  Ahmed N. Sahly⁷  Omar I. Saadah⁸ 

[1] Department of Biology, College of Science, University of Jeddah, Jeddah, Saudi Arabia;Department of Health Information Technology, Faculty of Applied Studies, King Abdulaziz University, Jeddah, Saudi Arabia;Department of Pediatrics, Al-Hada Armed Forces Hospital, Taif, Saudi Arabia;Pediatric Hepatology Unit, Department of Pediatrics, Faculty of Medicine, Cairo University, Cairo, Egypt;Department of Physiology, Faculty of Medicine, King Abdulaziz University, Jeddah, Saudi Arabia;Princess Al-Jawhara Center of Excellence in Research of Hereditary Disorders, King Abdulaziz University, Jeddah, Saudi Arabia;Department of Genetic Medicine, Faculty of Medicine, King Abdulaziz University, Jeddah, Saudi Arabia;Princess Al-Jawhara Center of Excellence in Research of Hereditary Disorders, King Abdulaziz University, Jeddah, Saudi Arabia;Department of Medical Laboratory Technology, Faculty of Applied Medical Sciences, King Abdulaziz University, Jeddah, Saudi Arabia;Princess Al-Jawhara Center of Excellence in Research of Hereditary Disorders, King Abdulaziz University, Jeddah, Saudi Arabia;Department of Neurosciences, King Faisal Specialist Hospital and Research Centre, Jeddah, Saudi Arabia;Princess Al-Jawhara Center of Excellence in Research of Hereditary Disorders, King Abdulaziz University, Jeddah, Saudi Arabia;Pediatric Gastroenterology Unit, Department of Pediatrics, Faculty of Medicine, King Abdulaziz University, Jeddah, Saudi Arabia;

关键词: Alström syndrome;    ALMS1;    splice site mutation;    rare variant;    Saudi Arabia;   

DOI  :  10.3389/fped.2021.652011

来源: Frontiers

【 授权许可】

CC BY