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

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healthcare

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paperdataset

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NamTheBruHou

Editor:

CenLipFHULab

Publisher:

CCSD

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International audience 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.

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

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Whole Exome Sequencing Identifies New Causative Mutations in Tunisian Families with Non-Syndromic Deafness

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

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Whole Exome Sequencing Identifies New Causative Mutations in Tunisian Families with Non-Syndromic Deafness

Data from Exome Sequencing of African-American Prostate Cancer Reveals Loss-of-Function &lt;i&gt;ERF&lt;/i&gt; Mutations

Increasing African genomic data generation and sharing to resolve rare and undiagnosed diseases in Africa: a call-to-action by the H3Africa rare diseases working group

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Data from Exome Sequencing of African-American Prostate Cancer Reveals Loss-of-Function <i>ERF</i> Mutations