Identification of 2 novel homozygous mutations in the methylmalonyl-CoA mutase gene in Saudi patients

Authors

• Sarar Mohamed, From the Department of Pediatrics (Mohamed, Hamad), the Ophthalmic Genetics Laboratory, Department Of Ophthalmology (Abu-Amero), College of Medicine, King Saud University, Riyadh, Kingdom of Saudi Arabia
• Muddathir H. Hamad, From the Department of Pediatrics (Mohamed, Hamad), the Ophthalmic Genetics Laboratory, Department Of Ophthalmology (Abu-Amero), College of Medicine, King Saud University, Riyadh, Kingdom of Saudi Arabia
• Khaled K. Abu-Amero, From the Department of Pediatrics (Mohamed, Hamad), the Ophthalmic Genetics Laboratory, Department Of Ophthalmology (Abu-Amero), College of Medicine, King Saud University, Riyadh, Kingdom of Saudi Arabia

Abstract

The aim of this report is to analyze the clinical features, and mutations of the methylmalonyl CoA mutase (MUT) gene in 2 patients with methylmalonic aciduria (MMA) attending King Saud University Medical City, Riyadh, Saudi Arabia in January 2014. The infants aged 6 days (patient 1) and 3 months (patient 2) with sepsis-like picture, metabolic acidosis, and hyperammonemia were presented. Investigations revealed high propionylcarnitine (C3), elevated urinary methylmalonic acids, 3-hydroxypropionic acids and methylcitrate, consistent with MMA. Sanger-sequencing detected a homozygous novel mutation (c.329A>G; p.Y110C) in the MUT gene in patient 1 and a heterozygous in parents. This mutation is predicted to have a damaging effect on the protein structure and function. In patient 2, we detected a novel homozygous nonsense mutation (c.2200C>T; p.Q734X) and a heterozygous in parents. This mutation leads to a premature stop-codon at codon 734 of the MUT gene. We identified 2 novel mutations in the MUT gene causing isolated MMA.

Article Type

Case Report

First Page

1110

Last Page

1114

Recommended Citation

Mohamed, Sarar; Hamad, Muddathir H.; and Abu-Amero, Khaled K. (2015) "Identification of 2 novel homozygous mutations in the methylmalonyl-CoA mutase gene in Saudi patients," Saudi Medical Journal: Vol. 36: Iss. 9, Article 14.
DOI: https://doi.org/10.15537/smj.2015.9.12118