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

Fiche publication

Date publication

août 2017


Clinical genetics


Membres identifiés du Cancéropôle Est :
Pr FAIVRE Laurence, Dr NAMBOT Sophie

Tous les auteurs :
Nambot S, Gavrilov D, Thevenon J, Bruel AL, Bainbridge M, Rio M, Goizet C, Rötig A, Jaeken J, Niu N, Xia F, Vital A, Houcinat N, Mochel F, Kuentz P, Lehalle D, Duffourd Y, Rivière JB, Thauvin-Robinet C, Beaudet AL, Faivre L


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

Adolescent, Adult, Child, Cytochrome Reductases, genetics, Female, Genetic Predisposition to Disease, Heterozygote, Humans, Male, Mitochondrial Encephalomyopathies, genetics, Mutation, Pedigree, Whole Exome Sequencing, Young Adult


Clin. Genet.. 2017 Aug;92(2):188-198