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Publication Details
AFRICAN RESEARCH NEXUS
SHINING A SPOTLIGHT ON AFRICAN RESEARCH
biochemistry, genetics and molecular biology
Second report of RING finger protein 113A (RNF113A) involvement in a Mendelian disorder
American Journal of Medical Genetics, Part A, Volume 182, No. 3, Year 2020
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Description
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. © 2019 Wiley Periodicals, Inc.
Authors & Co-Authors
Bault, Jean Philippe
France, Poissy
Centre Hospitalier Intercommunal Poissy-st-germain-en-laye
France, Le Kremlin-bicetre
Hopital de Bicetre
Charif, Majida
France, Angers
Biologie Neurovasculaire et Mitochondriale Intégrée
Guichet, Agnès
France, Angers
Chu Angers
Ziegler, Alban
France, Angers
Chu Angers
France, Angers
Biologie Neurovasculaire et Mitochondriale Intégrée
Bris, Céline
France, Angers
Chu Angers
France, Angers
Biologie Neurovasculaire et Mitochondriale Intégrée
Laquérrière, Annie
France, Caen
Normandie Université
France, Rouen
Chu Rouen Normandie
Fallet-Bianco, Catherine
France, Paris
Centre Hospitalier Sainte-anne
Jacquette, Aurélia
France, Paris
Ap-hp Assistance Publique - Hopitaux de Paris
Héron, Délphine
France, Paris
Ap-hp Assistance Publique - Hopitaux de Paris
Reynier, Pascal
France, Angers
Chu Angers
France, Angers
Biologie Neurovasculaire et Mitochondriale Intégrée
Procaccio, Vincent
France, Angers
Chu Angers
France, Angers
Biologie Neurovasculaire et Mitochondriale Intégrée
Bonneau, Dominique
France, Angers
Chu Angers
France, Angers
Biologie Neurovasculaire et Mitochondriale Intégrée
Colin, Estelle
France, Angers
Chu Angers
France, Angers
Biologie Neurovasculaire et Mitochondriale Intégrée
Statistics
Citations: 8
Authors: 13
Affiliations: 8
Identifiers
Doi:
10.1002/ajmg.a.61384
ISSN:
15524825
Research Areas
Disability
Genetics And Genomics