Literature DB >> 34992252

Clinical findings and a DNA methylation signature in kindreds with alterations in ZNF711.

Jiyong Wang1, Aidin Foroutan2, Ellen Richardson1, Steven A Skinner1, Jack Reilly2, Jennifer Kerkhof3, Cynthia J Curry4, Patrick S Tarpey5, Stephen P Robertson6, Isabelle Maystadt7, Boris Keren8, Joanne W Dixon9, Cindy Skinner1, Rachel Stapleton9, Lyse Ruaud10, Evren Gumus11, Phillis Lakeman12, Mariëlle Alders12, Matthew L Tedder1, Charles E Schwartz1, Michael J Friez1, Bekim Sadikovic2,3, Roger E Stevenson13.   

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.
© 2021. The Author(s), under exclusive licence to European Society of Human Genetics.

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Year:  2022        PMID： 34992252      PMCID： PMC8990020          DOI： 10.1038/s41431-021-01018-1

Source DB:  PubMed          Journal:  Eur J Hum Genet        ISSN： 1018-4813            Impact factor:   4.246


  32 in total

Review 1.  DNA methylation analysis in constitutional disorders: Clinical implications of the epigenome.

Authors:  Laila C Schenkel; David I Rodenhiser; Peter J Ainsworth; Guillaume Paré; Bekim Sadikovic
Journal:  Crit Rev Clin Lab Sci       Date:  2016-01-12       Impact factor: 6.250

2.  Evidence that SIZN1 is a candidate X-linked mental retardation gene.

Authors:  Ginam Cho; Shambhu S Bhat; Jinsong Gao; Julianne S Collins; R Curtis Rogers; Richard J Simensen; Charles E Schwartz; Jeffrey A Golden; Anand K Srivastava
Journal:  Am J Med Genet A       Date:  2008-10-15       Impact factor: 2.802

3.  Localisation of two candidate genes for mental retardation using a YAC physical map of the Xq21.1-21.2 subbands.

Authors:  L Colleaux; M May; J Belougne; D Lepaslier; C Schwartz; M Fontes
Journal:  J Med Genet       Date:  1996-05       Impact factor: 6.318

4.  Evaluation of DNA Methylation Episignatures for Diagnosis and Phenotype Correlations in 42 Mendelian Neurodevelopmental Disorders.

Authors:  Erfan Aref-Eshghi; Jennifer Kerkhof; Victor P Pedro; Mouna Barat-Houari; Nathalie Ruiz-Pallares; Jean-Christophe Andrau; Didier Lacombe; Julien Van-Gils; Patricia Fergelot; Christèle Dubourg; Valerie Cormier-Daire; Sophie Rondeau; François Lecoquierre; Pascale Saugier-Veber; Gaël Nicolas; Gaetan Lesca; Nicolas Chatron; Damien Sanlaville; Antonio Vitobello; Laurence Faivre; Christel Thauvin-Robinet; Frederic Laumonnier; Martine Raynaud; Mariëlle Alders; Marcel Mannens; Peter Henneman; Raoul C Hennekam; Guillaume Velasco; Claire Francastel; Damien Ulveling; Andrea Ciolfi; Simone Pizzi; Marco Tartaglia; Solveig Heide; Delphine Héron; Cyril Mignot; Boris Keren; Sandra Whalen; Alexandra Afenjar; Thierry Bienvenu; Philippe M Campeau; Justine Rousseau; Michael A Levy; Lauren Brick; Mariya Kozenko; Tugce B Balci; Victoria Mok Siu; Alan Stuart; Mike Kadour; Jennifer Masters; Kyoko Takano; Tjitske Kleefstra; Nicole de Leeuw; Michael Field; Marie Shaw; Jozef Gecz; Peter J Ainsworth; Hanxin Lin; David I Rodenhiser; Michael J Friez; Matt Tedder; Jennifer A Lee; Barbara R DuPont; Roger E Stevenson; Steven A Skinner; Charles E Schwartz; David Genevieve; Bekim Sadikovic
Journal:  Am J Hum Genet       Date:  2020-02-27       Impact factor: 11.025

5.  Molecular analysis of four males with mental retardation and deletions of Xq21 places the putative MR region in Xq21.1 between DXS233 and CHM.

Authors:  M May; L Colleaux; A Murgia; A Aylsworth; R Nussbaum; M Fontes; C Schwartz
Journal:  Hum Mol Genet       Date:  1995-08       Impact factor: 6.150

6.  Intellectual disability associated with retinal dystrophy in the Xp11.3 deletion syndrome: ZNF674 on trial. Guilty or innocent?

Authors:  Nathalie Delphin; Sylvain Hanein; Lucas Fares Taie; Xavier Zanlonghi; Dominique Bonneau; Jean-Paul Moisan; Christine Boyle; Patrick Nitschke; Solenn Pruvost; Jean-Paul Bonnefont; Arnold Munnich; Olivier Roche; Josseline Kaplan; Jean-Michel Rozet
Journal:  Eur J Hum Genet       Date:  2011-11-30       Impact factor: 4.246

7.  Mutations in ZDHHC9, which encodes a palmitoyltransferase of NRAS and HRAS, cause X-linked mental retardation associated with a Marfanoid habitus.

Authors:  F Lucy Raymond; Patrick S Tarpey; Sarah Edkins; Calli Tofts; Sarah O'Meara; Jon Teague; Adam Butler; Claire Stevens; Syd Barthorpe; Gemma Buck; Jennifer Cole; Ed Dicks; Kristian Gray; Kelly Halliday; Katy Hills; Jonathon Hinton; David Jones; Andrew Menzies; Janet Perry; Keiran Raine; Rebecca Shepherd; Alexandra Small; Jennifer Varian; Sara Widaa; Uma Mallya; Jenny Moon; Ying Luo; Marie Shaw; Jackie Boyle; Bronwyn Kerr; Gillian Turner; Oliver Quarrell; Trevor Cole; Douglas F Easton; Richard Wooster; Martin Bobrow; Charles E Schwartz; Jozef Gecz; Michael R Stratton; P Andrew Futreal
Journal:  Am J Hum Genet       Date:  2007-03-20       Impact factor: 11.025

Review 8.  DNA methylation signatures in mendelian developmental disorders as a diagnostic bridge between genotype and phenotype.

Authors:  Bekim Sadikovic; Erfan Aref-Eshghi; Michael A Levy; David Rodenhiser
Journal:  Epigenomics       Date:  2019-03-15       Impact factor: 4.778

9.  SPEN haploinsufficiency causes a neurodevelopmental disorder overlapping proximal 1p36 deletion syndrome with an episignature of X chromosomes in females.

Authors:  Francesca Clementina Radio; Kaifang Pang; Andrea Ciolfi; Michael A Levy; Andrés Hernández-García; Lucia Pedace; Francesca Pantaleoni; Zhandong Liu; Elke de Boer; Adam Jackson; Alessandro Bruselles; Haley McConkey; Emilia Stellacci; Stefania Lo Cicero; Marialetizia Motta; Rosalba Carrozzo; Maria Lisa Dentici; Kirsty McWalter; Megha Desai; Kristin G Monaghan; Aida Telegrafi; Christophe Philippe; Antonio Vitobello; Margaret Au; Katheryn Grand; Pedro A Sanchez-Lara; Joanne Baez; Kristin Lindstrom; Peggy Kulch; Jessica Sebastian; Suneeta Madan-Khetarpal; Chelsea Roadhouse; Jennifer J MacKenzie; Berrin Monteleone; Carol J Saunders; July K Jean Cuevas; Laura Cross; Dihong Zhou; Taila Hartley; Sarah L Sawyer; Fabíola Paoli Monteiro; Tania Vertemati Secches; Fernando Kok; Laura E Schultz-Rogers; Erica L Macke; Eva Morava; Eric W Klee; Jennifer Kemppainen; Maria Iascone; Angelo Selicorni; Romano Tenconi; David J Amor; Lynn Pais; Lyndon Gallacher; Peter D Turnpenny; Karen Stals; Sian Ellard; Sara Cabet; Gaetan Lesca; Joset Pascal; Katharina Steindl; Sarit Ravid; Karin Weiss; Alison M R Castle; Melissa T Carter; Louisa Kalsner; Bert B A de Vries; Bregje W van Bon; Marijke R Wevers; Rolph Pfundt; Alexander P A Stegmann; Bronwyn Kerr; Helen M Kingston; Kate E Chandler; Willow Sheehan; Abdallah F Elias; Deepali N Shinde; Meghan C Towne; Nathaniel H Robin; Dana Goodloe; Adeline Vanderver; Omar Sherbini; Krista Bluske; R Tanner Hagelstrom; Caterina Zanus; Flavio Faletra; Luciana Musante; Evangeline C Kurtz-Nelson; Rachel K Earl; Britt-Marie Anderlid; Gilles Morin; Marjon van Slegtenhorst; Karin E M Diderich; Alice S Brooks; Joost Gribnau; Ruben G Boers; Teresa Robert Finestra; Lauren B Carter; Anita Rauch; Paolo Gasparini; Kym M Boycott; Tahsin Stefan Barakat; John M Graham; Laurence Faivre; Siddharth Banka; Tianyun Wang; Evan E Eichler; Manuela Priolo; Bruno Dallapiccola; Lisenka E L M Vissers; Bekim Sadikovic; Daryl A Scott; Jimmy Lloyd Holder; Marco Tartaglia
Journal:  Am J Hum Genet       Date:  2021-02-16       Impact factor: 11.025

Review 10.  Non-syndromic X linked intellectual disability: Current knowledge in light of the recent advances in molecular and functional studies.

Authors:  María Isabel Tejada; Nekane Ibarluzea
Journal:  Clin Genet       Date:  2020-01-09       Impact factor: 4.438
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  3 in total

Review 1.  ZNF711 puts a spell on DNA.

Authors:  R Frank Kooy
Journal:  Eur J Hum Genet       Date:  2022-02-07       Impact factor: 4.246

2.  No April fools in clinical genomics.

Authors:  Alisdair McNeill
Journal:  Eur J Hum Genet       Date:  2022-04       Impact factor: 4.246

3.  Identification of DCAF1 by Clinical Exome Sequencing and Methylation Analysis as a Candidate Gene for Autism and Intellectual Disability: A Case Report.

Authors:  Jeffery L Clothier; Amy N Grooms; Patricia A Porter-Gill; Pritmohinder S Gill; G Bradley Schaefer
Journal:  J Pers Med       Date:  2022-05-27
  3 in total

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