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Genomic sequencing highlights the diverse molecular causes of Perrault syndrome: a peroxisomal disorder (PEX6), metabolic disorders (CLPP, GGPS1), and mtDNA maintenance/translation disorders (LARS2, TFAM).
Tucker, Elena J; Rius, Rocio; Jaillard, Sylvie; Bell, Katrina; Lamont, Phillipa J; Travessa, André; Dupont, Juliette; Sampaio, Lurdes; Dulon, Jérôme; Vuillaumier-Barrot, Sandrine; Whalen, Sandra; Isapof, Arnaud; Stojkovic, Tanya; Quijano-Roy, Susana; Robevska, Gorjana; van den Bergen, Jocelyn; Hanna, Chloe; Simpson, Andrea; Ayers, Katie; Thorburn, David R; Christodoulou, John; Touraine, Philippe; Sinclair, Andrew H.
Afiliação
  • Tucker EJ; Reproductive Development Group, Murdoch Children's Research Institute, Melbourne, Australia. elena.tucker@mcri.edu.au.
  • Rius R; Department of Paediatrics, University of Melbourne, Melbourne, Australia. elena.tucker@mcri.edu.au.
  • Jaillard S; Department of Paediatrics, University of Melbourne, Melbourne, Australia.
  • Bell K; Brain and Mitochondrial Research Group, Murdoch Children's Research Institute, Melbourne, Australia.
  • Lamont PJ; Service de Cytogénétique et Biologie Cellulaire, CHU Rennes, 35033, Rennes, France.
  • Travessa A; Univ Rennes, CHU Rennes, INSERM, EHESP, IRSET (Institut de Recherche en Santé, Environnement et Travail)-UMR_S 1085, 35000, Rennes, France.
  • Dupont J; Department of Bioinformatics, Murdoch Children's Research Institute, Melbourne, Australia.
  • Sampaio L; Neurogenetic Unit, Royal Perth Hospital, Perth, WA, Australia.
  • Dulon J; Serviço de Genética Médica, Departamento de Pediatria, Hospital de Santa Maria, Centro Hospitalar Universitário Lisboa Norte, Centro Académico de Medicina de Lisboa, Lisbon, Portugal.
  • Vuillaumier-Barrot S; Serviço de Genética Médica, Departamento de Pediatria, Hospital de Santa Maria, Centro Hospitalar Universitário Lisboa Norte, Centro Académico de Medicina de Lisboa, Lisbon, Portugal.
  • Whalen S; Departamento de Pediatria, Hospital de Santa Maria, Centro Hospitalar Universitário Lisboa Norte, Centro Académico de Medicina de Lisboa, Unidade de Endocrinologia Pediátrica, Lisbon, Portugal.
  • Isapof A; Department of Endocrinology and Reproductive Medicine, Centre de Référence des Maladies Endocriniennes Rares de la Croissance et du Développement, Centre des Pathologies Gynécologiques Rares, AP-HP, Sorbonne University Medicine, Paris, France.
  • Stojkovic T; AP-HP, Biochimie et Génétique, Hôpital Bichat-Claude Bernard, Paris, France.
  • Quijano-Roy S; INSERM U1149, Paris, France.
  • Robevska G; AP-HP, UF de Génétique Clinique, Centre de Référence Maladies Rares Anomalies du Développement et Syndromes Malformatifs, Hôpital Armand Trousseau, Paris, France.
  • van den Bergen J; Department Child Neurology and Reference Center for Neuromuscular Diseases "Nord/Est/Ile-de-France", GRC ConCer-LD, UPMC Univ Paris 06, Sorbonne Universités, FILNEMUS, 75012, Paris, France.
  • Hanna C; APHP, Sorbonne University, Pitié-Salpêtrière Hospital, Nord/Est/Ile de France Neuromuscular Reference Center, Myology Institute, Paris, France.
  • Simpson A; Centre de Référence Maladies Neuromusculaires, Service de Neurologie, Réanimation et Réeducation Pédiatriques, Hôpital Raymond Poincaré (APHP Paris Saclay, UVSQ), Garches, France.
  • Ayers K; Reproductive Development Group, Murdoch Children's Research Institute, Melbourne, Australia.
  • Thorburn DR; Reproductive Development Group, Murdoch Children's Research Institute, Melbourne, Australia.
  • Christodoulou J; Reproductive Development Group, Murdoch Children's Research Institute, Melbourne, Australia.
  • Touraine P; Department of Paediatric and Adolescent Gynaecology, Royal Children's Hospital, Melbourne, VIC, 3052, Australia.
  • Sinclair AH; School of Allied Health, La Trobe University, Melbourne, Australia.
Hum Genet ; 139(10): 1325-1343, 2020 Oct.
Article em En | MEDLINE | ID: mdl-32399598
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Fatores de Transcrição / Predisposição Genética para Doença / Disgenesia Gonadal 46 XX / Proteínas Mitocondriais / Endopeptidase Clp / Dimetilaliltranstransferase / Proteínas de Ligação a DNA / Farnesiltranstransferase / Geraniltranstransferase / ATPases Associadas a Diversas Atividades Celulares Tipo de estudo: Diagnostic_studies / Etiology_studies / Prognostic_studies Limite: Adolescent / Adult / Child / Female / Humans / Male Idioma: En Revista: Hum Genet Ano de publicação: 2020 Tipo de documento: Article País de afiliação: Austrália
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Fatores de Transcrição / Predisposição Genética para Doença / Disgenesia Gonadal 46 XX / Proteínas Mitocondriais / Endopeptidase Clp / Dimetilaliltranstransferase / Proteínas de Ligação a DNA / Farnesiltranstransferase / Geraniltranstransferase / ATPases Associadas a Diversas Atividades Celulares Tipo de estudo: Diagnostic_studies / Etiology_studies / Prognostic_studies Limite: Adolescent / Adult / Child / Female / Humans / Male Idioma: En Revista: Hum Genet Ano de publicação: 2020 Tipo de documento: Article País de afiliação: Austrália