Case Report

Volume: 4 | Issue: 1 | Published: Jan 17, 2021 | Pages: 51 - 55 | DOI: 10.24911/JBCGenetics/183-1603099467

A founder mutation in the ETHE1 gene and ethylmalonic encephalopathy in the Omani population

Authors: Aaisha Al Balushi , Nooh Al Bakri , Nadia Al Hashmi

Article Info

Authors

Aaisha Al Balushi

Royal Hospital, Ministry of Health, Muscat, Oman

Nooh Al Bakri

Royal Hospital, Ministry of Health, Muscat, Oman

Nadia Al Hashmi

Royal Hospital, Ministry of Health, Muscat, Oman

Publication History

Received: October 19, 2020

Revised: December 10, 2020

Accepted: December 15, 2020

Published: January 17, 2021

Abstract

Background: Ethylmalonic encephalopathy (EE) is a devastating early-onset inborn error of metabolism, and heterogenous disorders manifest as chronic diarrhea, petechial rash, and neurological manifestations. The mutation in the ETHE1 gene leads to hydrogen sulfide accumulation and eventually results in mucosal cell damage in the large intestines and vascular endothelial cells system. Case presentation: Here, we describe four patients from three different tribes in Oman, and the clinical data revealed that the four patients shared an early-onset phenotype and the neurological manifestations were variable. The biochemical markers, specifically the urine organic acid and hyperlactimic acidosis, supported and tailored the diagnosis. Molecular diagnosis was confirmed by full gene sequencing of the ETHE1 gene in the index case and followed by target variant testing for others. Interestingly, all four patients identified to harbor the same homozygous missense pathogenic variant (c.487c > t) in the ETHE1 gene, and their parents were all heterozygous. These findings indicate that we probably have a founder variant associated with EE in our area. Conclusion: These findings are of great importance for diagnosis and surveillance for Omani families with EE. Given the relatively high number and frequency of genetic diseases in the region and the limited resources, screening for these founder mutations should provide a rapid and cost-effective tool for molecular diagnosis. Additionally, these findings should help in designing appropriate measures for carrier screening measures at the regional level.

Keywords: Ethylmalonic encephalopathy, Oman, ETHE1 gene

Open access Creative Commons License

Pubmed Style

Aaisha Al Balushi, Nooh Al Bakri, Nadia Al Hashmi. A founder mutation in the ETHE1 gene and ethylmalonic encephalopathy in the Omani population. JBC Genetics. 2021; 17 (January 2021): 51-55. doi:10.24911/JBCGenetics/183-1603099467

Web Style

Aaisha Al Balushi, Nooh Al Bakri, Nadia Al Hashmi. A founder mutation in the ETHE1 gene and ethylmalonic encephalopathy in the Omani population. https://www.jbcgenetics.com/articles/2130 [Access: April 27, 2025]. doi:10.24911/JBCGenetics/183-1603099467

AMA (American Medical Association) Style

Aaisha Al Balushi, Nooh Al Bakri, Nadia Al Hashmi. A founder mutation in the ETHE1 gene and ethylmalonic encephalopathy in the Omani population. JBC Genetics. 2021; 17 (January 2021): 51-55. doi:10.24911/JBCGenetics/183-1603099467

Vancouver/ICMJE Style

Aaisha Al Balushi, Nooh Al Bakri, Nadia Al Hashmi. A founder mutation in the ETHE1 gene and ethylmalonic encephalopathy in the Omani population. JBC Genetics. (2021), [cited April 27, 2025]; 17 (January 2021): 51-55. doi:10.24911/JBCGenetics/183-1603099467

Harvard Style

Aaisha Al Balushi, Nooh Al Bakri, Nadia Al Hashmi (2021) A founder mutation in the ETHE1 gene and ethylmalonic encephalopathy in the Omani population. JBC Genetics, 17 (January 2021): 51-55. doi:10.24911/JBCGenetics/183-1603099467

Chicago Style

Aaisha Al Balushi, Nooh Al Bakri, Nadia Al Hashmi. "A founder mutation in the ETHE1 gene and ethylmalonic encephalopathy in the Omani population." 17 (2021), 51-55. doi:10.24911/JBCGenetics/183-1603099467

MLA (The Modern Language Association) Style

Aaisha Al Balushi, Nooh Al Bakri, Nadia Al Hashmi. "A founder mutation in the ETHE1 gene and ethylmalonic encephalopathy in the Omani population." 17.January 2021 (2021), 51-55. Print. doi:10.24911/JBCGenetics/183-1603099467

APA (American Psychological Association) Style

Aaisha Al Balushi, Nooh Al Bakri, Nadia Al Hashmi (2021) A founder mutation in the ETHE1 gene and ethylmalonic encephalopathy in the Omani population. , 17 (January 2021), 51-55. doi:10.24911/JBCGenetics/183-1603099467