SVOA Paediatrics

HMAIMESS Ghassan^1,2, EL-ACHKAR Ghewa², HAMOUCHE Naji¹, EID Marie-Therese¹, ABI SAAB Aimee², HAGE Pierre¹, MEGARBANE Andre³, BARMADA Mamdouha⁴ and MANSOUR Hicham^1,2*

¹ Department of Pediatrics, Neurometabolic Unit, Saint George University Medical Center, Lebanon.

² Faculty of Medicine, Saint George University of Beirut, Lebanon.

³ Department of Human Genetics, Gilbert and Rose-Marie Chagoury School of Medicine, Lebanese American University, Lebanon.

⁴ Neuromuscular Pathology department, American University of Beirut, Lebanon.

*Corresponding Author: MANSOUR Hicham, Department of Pediatrics, Neurometabolic Unit, Saint George University Medical Center, Lebanon.

DOI: https://doi.org/10.58624/SVOAPD.2023.02.049

Received: September 23, 2023     Published: October 30, 2023

Abstract

Mitochondrial disorders can present with a very wide clinical variability depending on the affected gene. Novel mutations in mitochondrial diseases are being identified more frequently than the past decades in the Lebanese population, where these disorders rank as the most common inborn errors of metabolism. Here we describe a novel COX10 variant in a female patient from south Lebanon, presenting with congenital cataracts, failure to thrive, microcephaly, global developmental delay and behavioral problems. The patient carries a not reported before missense mutation in the COX10 gene (c.514A>G p.(Thr172Ala)), confirming the diagnosis of a homozygous COX10 variant, in favor of Leigh syndrome The cataracts finding. This is to our knowledge the first reported patient with COX10 mutation presenting with congenital cataracts; thus, adding to the clinical spectrum of this disease.

Keywords: Mitochondrial disease, Leigh Syndrome, COX10, Congenital cataracts, Microcephaly.

Citation: Hmaimess G, El-Achkar G, Hamouche N, Marie-Therese E, Abi Saab A, Hage P, Megarbane A, Barmada M, Mansour H. Cox10 Novel Variant in a Lebanese Female Patient with Congenital Cataracts. SVOA Paediatrics 2023, 2:5, 151-155.