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Article

First description of the MEGDEHL syndrome in the Tunisian population via whole-exome sequencing: Novel nonsense mutation in SERAC1 gene.

International journal of developmental neuroscience : the official journal of the International Society for Developmental Neuroscience - 1 Dec 2022

Felhi Rahma, Monastiri Kamel, Ben Hamida Hayet, Ammar Marwa, Chioukh Fatma Zohra, Tabarki Brahim, Chouchen Jihene, Fakhfakh Faiza, Tlili Abdelaziz, Mkaouar-Rebai Emna

Abstract excerpt

INTRODUCTION: MEGDEL syndrome is a rare recessive disorder, with about 100 cases reported worldwide, which is defined by 3-methylglutaconic aciduria (MEG), deafness (D), encephalopathy (E) and Leigh-like syndrome (L). When these manifestations were added to hepatopathy (H), the syndrome was labelled as MEGD(H)EL. Mutations in SERAC1 gene encoding a serine active site containing 1 protein were described in...

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PMID: 35943861
DOI: 10.1002/jdn.10223

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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