Further delineation of a rare recessive encephalomyopathy linked to mutations in GFER thanks to data sharing of whole exome sequencing data.

Sophie Nambot (1) , Julien Thevenon (2, 1) , Ange-Line Bruel (2) , Nada Houcinat (1) , Paul Kuentz (2, 3) , Daphne Lehalle (2, 1) , Yannis Duffourd (2) , Jean-Baptiste Riviere (4, 2) , Christel Thauvin-Robinet (1, 2) , Laurence Faivre (1, 2)

1 Centre de génétique - Centre de référence des maladies rares, anomalies du développement et syndromes malformatifs (CHU de Dijon)
2 LNC - Lipides - Nutrition - Cancer [Dijon - U1231]
3 FHU TRANSLAD (CHU de Dijon)
4 Laboratoire de cytogénétique (CHU de Dijon)

Alterations in GFER gene have been associated with progressive mitochondrial myopathy, congenital cataracts, hearing loss, developmental delay, lactic acidosis and respiratory chain deficiency in 3 siblings born to consanguineous Moroccan parents by homozygosity mapping and candidate gene approach (OMIM#613076). Next generation sequencing recently confirmed this association by the finding of compound heterozygous variants in 19-year-old girl with a strikingly similar phenotype, but this ultra-rare entity remains however unknown from most of the scientific community.

Mots clés: GFER; data sharing; mitochondrial condition; whole-exome sequencing

Domaines: Génétique

Sophie Nambot, Julien Thevenon, Ange-Line Bruel, Nada Houcinat, Paul Kuentz, et al.. Further delineation of a rare recessive encephalomyopathy linked to mutations in GFER thanks to data sharing of whole exome sequencing data.. Clinical Genetics, 2017, 92 (2), pp.188-198. ⟨10.1111/cge.12985⟩. ⟨hal-01553190⟩