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

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 patients affected by this syndrome.