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Clinical findings and a DNA methylation signature in kindreds with alterations in ZNF711.
Wang, Jiyong; Foroutan, Aidin; Richardson, Ellen; Skinner, Steven A; Reilly, Jack; Kerkhof, Jennifer; Curry, Cynthia J; Tarpey, Patrick S; Robertson, Stephen P; Maystadt, Isabelle; Keren, Boris; Dixon, Joanne W; Skinner, Cindy; Stapleton, Rachel; Ruaud, Lyse; Gumus, Evren; Lakeman, Phillis; Alders, Mariëlle; Tedder, Matthew L; Schwartz, Charles E; Friez, Michael J; Sadikovic, Bekim; Stevenson, Roger E.
  • Wang J; Greenwood Genetic Center, Greenwood, SC, USA.
  • Foroutan A; Department of Pathology and Laboratory Medicine, Western University, London, ON, Canada.
  • Richardson E; Greenwood Genetic Center, Greenwood, SC, USA.
  • Skinner SA; Greenwood Genetic Center, Greenwood, SC, USA.
  • Reilly J; Department of Pathology and Laboratory Medicine, Western University, London, ON, Canada.
  • Kerkhof J; Verspeeten Clinical Genome Centre, London Health Sciences Centre, London, ON, Canada.
  • Curry CJ; Genetic Medicine, University of California, San Francisco/Fresno, Fresno, CA, USA.
  • Tarpey PS; Wellcome Trust Sanger Institute, Hinxton, Cambridge, UK.
  • Robertson SP; Department of Women's and Children's Health, Dunedin School of Medicine, University of Otago, Dunedin, New Zealand.
  • Maystadt I; Centre de Génétique Humaine, Institute de Pathologie et de Génétique, Gosselies, BE, Charleroi, Belgium.
  • Keren B; Genetic Department, La Pitie-Salpetriere Hospital, APHP.Sorbonne Universite, Paris, France.
  • Dixon JW; Genetic Health Services New Zealand, Christchurch Hospital, Christchurch, New Zealand.
  • Skinner C; Greenwood Genetic Center, Greenwood, SC, USA.
  • Stapleton R; Genetic Health Services New Zealand, Christchurch Hospital, Christchurch, New Zealand.
  • Ruaud L; Department of Genetics, APHP.Nord, Robert Debré Hospital, Paris, FR and University of Paris, UMR 1141NEURODIDEROT, INSERM, Paris, France.
  • Gumus E; Medical Genetics Department, Mugla Sitki Kocman University, Mugla, Turkey.
  • Lakeman P; Department of Clinical Genetics, Amsterdam University Medical Center, Amsterdam, Netherlands.
  • Alders M; Department of Clinical Genetics, Amsterdam University Medical Center, Amsterdam, Netherlands.
  • Tedder ML; Greenwood Genetic Center, Greenwood, SC, USA.
  • Schwartz CE; Greenwood Genetic Center, Greenwood, SC, USA.
  • Friez MJ; Greenwood Genetic Center, Greenwood, SC, USA.
  • Sadikovic B; Department of Pathology and Laboratory Medicine, Western University, London, ON, Canada.
  • Stevenson RE; Verspeeten Clinical Genome Centre, London Health Sciences Centre, London, ON, Canada.
Eur J Hum Genet ; 30(4): 420-427, 2022 04.
Article en En | MEDLINE | ID: mdl-34992252
ABSTRACT
ZNF711 is one of eleven zinc-finger genes on the X chromosome that have been associated with X-linked intellectual disability. This association is confirmed by the clinical findings in 20 new cases in addition to 11 cases previously reported. No consistent growth aberrations, craniofacial dysmorphology, malformations or neurologic findings are associated with alterations in ZNF711. The intellectual disability is typically mild and coexisting autism occurs in half of the cases. Carrier females show no manifestations. A ZNF711-specific methylation signature has been identified which can assist in identifying new cases and in confirming the pathogenicity of variants in the gene.
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Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Trastorno Autístico / Discapacidad Intelectual Tipo de estudio: Diagnostic_studies / Prognostic_studies Límite: Female / Humans Idioma: En Año: 2022 Tipo del documento: Article
Texto completo
Imprimir
XML
PubMed Links
Search on Google

Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Trastorno Autístico / Discapacidad Intelectual Tipo de estudio: Diagnostic_studies / Prognostic_studies Límite: Female / Humans Idioma: En Año: 2022 Tipo del documento: Article