Identification of a novel splice site mutation in the SERAC1 gene responsible for the MEGDHEL syndrome

Sarah Snanoudj (1, 2) , Patrick Mordel (3) , Quentin Dupas (3) , Cécile Schanen (4) , Alina Arion (5) , Marion Gérard (1, 6) , Marie-Hélène Read (2) , Djamel Nait Rabah (7) , Didier Goux (8) , Françoise Chapon (9) , Mickael Jokic (5) , Stéphane Allouche (2, 3)

1 Service de Génétique [CHU Caen]
2 Service de biochimie [CHU Caen]
3 SEILIRM - Signalisation, électrophysiologie et imagerie des lésions d’ischémie-reperfusion myocardique
4 Laboratoire de Virologie - Laboratoire de Virologie - ULR 3610
5 Service de Pédiatrie Médicale [Caen]
6 BIOTARGEN - Biologie, génétique et thérapies ostéoarticulaires et respiratoires
7 CHU Caen
8 ICORE - Interactions Cellules Organismes Environnement
9 Département de Pathologie [CHU Caen]

MEGDHEL is an autosomal recessive syndrome defined as 3-MEthylGlutaconic aciduria (3-MGA) with Deafness, Hepatopathy, Encephalopathy, and Leigh-like syndrome on magnetic resonance imaging, due to mutations in the SERAC1 (Serine Active Site Containing 1) gene, which plays a role in the mitochondrial cardiolipin metabolism.

Mots clés: SERAC1; 3-MGA; MEGDHEL; cardiolipin metabolism; mitochondria

Domaines: Génétique; Génétique humaine

Sarah Snanoudj, Patrick Mordel, Quentin Dupas, Cécile Schanen, Alina Arion, et al.. Identification of a novel splice site mutation in the SERAC1 gene responsible for the MEGDHEL syndrome. Molecular Genetics & Genomic Medicine, 2019, 7 (8), pp.e815. ⟨10.1002/mgg3.815⟩. ⟨hal-02394273⟩