1. Second report of RING finger protein 113A (RNF113A) involvement in a Mendelian disorder
- Author
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Dominique Bonneau, Jean-Philippe Bault, Vincent Procaccio, Marine Tessarech, Stéphane Triau, Houria Salhi, Annie Laquerrière, Alban Ziegler, Agnès Guichet, Françoise Boussion, Céline Bris, B. Delorme, Pascal Reynier, Magali Gorce, Catherine Fallet-Bianco, Estelle Colin, Salim Khiaty, Majida Charif, Delphine Héron, Aurélia Jacquette, Service de gynécologie-obstétrique, Centre Hospitalier Universitaire d'Angers (CHU Angers), PRES Université Nantes Angers Le Mans (UNAM)-PRES Université Nantes Angers Le Mans (UNAM), Service de foetopathologie, PRES Université Nantes Angers Le Mans (UNAM), Service de génétique [Angers], Université d'Angers (UA)-Centre Hospitalier Universitaire d'Angers (CHU Angers), Biologie Neurovasculaire et Mitochondriale Intégrée (BNMI), Centre National de la Recherche Scientifique (CNRS)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université d'Angers (UA), Physiopathologie Cardiovasculaire et Mitochondriale (MITOVASC), and Université d'Angers (UA)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)
- Subjects
Male ,Microcephaly ,[SDV]Life Sciences [q-bio] ,Trichothiodystrophy ,Biology ,03 medical and health sciences ,0302 clinical medicine ,Genes, X-Linked ,Intellectual Disability ,Exome Sequencing ,Genetics ,medicine ,Humans ,Trichothiodystrophy Syndromes ,Exome ,Gene ,Genetics (clinical) ,Exome sequencing ,ComputingMilieux_MISCELLANEOUS ,030304 developmental biology ,Zinc finger ,0303 health sciences ,Corpus Callosum Agenesis ,Genetic Diseases, X-Linked ,medicine.disease ,Pedigree ,RNF113A ,DNA-Binding Proteins ,RNA splicing ,Female ,Agenesis of Corpus Callosum ,030217 neurology & neurosurgery - Abstract
RING Finger Protein 113 A (RNF113A, MIM 300951) is a highly conserved gene located on chromosome Xq24-q25, encoding a protein containing two conserved zinc finger domains involved in DNA alkylation repair and premessenger RNA splicing. To date, only one pathogenic variant of RNF113A, namely c.901C>T; p.Gln301Ter, has been reported in humans by Tarpey et al. in 2009. Thereafter, Corbett et al. stated that this variant was responsible for an X-linked form of nonphotosensitive trichothiodystrophy associated with profound intellectual disability, microcephaly, partial corpus callosum agenesis, microphallus, and absent or rudimentary testes. This variant was then shown to alter DNA alkylation repair, providing an additional argument supporting its pathogenicity and important clues about the underlying pathophysiology of nonphotosensitive trichothiodystrophy. Using exome sequencing, we identified exactly the same RNF113A variant in two fetuses affected with abnormalities similar to those previously reported by Corbett et al. To our knowledge, this is the second report of a RNF113A pathogenic variant in humans.
- Published
- 2019
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