Literature DB >> 15300250

Mutations in a new member of the chromodomain gene family cause CHARGE syndrome.

Lisenka E L M Vissers1, Conny M A van Ravenswaaij, Ronald Admiraal, Jane A Hurst, Bert B A de Vries, Irene M Janssen, Walter A van der Vliet, Erik H L P G Huys, Pieter J de Jong, Ben C J Hamel, Eric F P M Schoenmakers, Han G Brunner, Joris A Veltman, Ad Geurts van Kessel.   

Abstract

CHARGE syndrome is a common cause of congenital anomalies affecting several tissues in a nonrandom fashion. We report a 2.3-Mb de novo overlapping microdeletion on chromosome 8q12 identified by array comparative genomic hybridization in two individuals with CHARGE syndrome. Sequence analysis of genes located in this region detected mutations in the gene CHD7 in 10 of 17 individuals with CHARGE syndrome without microdeletions, accounting for the disease in most affected individuals.

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Year:  2004        PMID： 15300250     DOI： 10.1038/ng1407

Source DB:  PubMed          Journal:  Nat Genet        ISSN： 1061-4036            Impact factor:   38.330


  390 in total

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Journal:  Am J Med Genet A       Date:  2010-12-10       Impact factor: 2.802

Review 2.  Genetic variation in the epigenetic machinery and mental health.

Authors:  Chris Murgatroyd; Dietmar Spengler
Journal:  Curr Psychiatry Rep       Date:  2012-04       Impact factor: 5.285

3.  Heterozygous missense mutations in SMARCA2 cause Nicolaides-Baraitser syndrome.

Authors:  Jeroen K J Van Houdt; Beata Anna Nowakowska; Sérgio B Sousa; Barbera D C van Schaik; Eve Seuntjens; Nelson Avonce; Alejandro Sifrim; Omar A Abdul-Rahman; Marie-José H van den Boogaard; Armand Bottani; Marco Castori; Valérie Cormier-Daire; Matthew A Deardorff; Isabel Filges; Alan Fryer; Jean-Pierre Fryns; Simone Gana; Livia Garavelli; Gabriele Gillessen-Kaesbach; Bryan D Hall; Denise Horn; Danny Huylebroeck; Jakub Klapecki; Malgorzata Krajewska-Walasek; Alma Kuechler; Matthew A Lines; Saskia Maas; Kay D Macdermot; Shane McKee; Alex Magee; Stella A de Man; Yves Moreau; Fanny Morice-Picard; Ewa Obersztyn; Jacek Pilch; Elizabeth Rosser; Nora Shannon; Irene Stolte-Dijkstra; Patrick Van Dijck; Catheline Vilain; Annick Vogels; Emma Wakeling; Dagmar Wieczorek; Louise Wilson; Orsetta Zuffardi; Antoine H C van Kampen; Koenraad Devriendt; Raoul Hennekam; Joris Robert Vermeesch
Journal:  Nat Genet       Date:  2012-02-26       Impact factor: 38.330

4.  Kismet/CHD7 regulates axon morphology, memory and locomotion in a Drosophila model of CHARGE syndrome.

Authors:  David J Melicharek; Laura C Ramirez; Sukhdeep Singh; Rhea Thompson; Daniel R Marenda
Journal:  Hum Mol Genet       Date:  2010-08-17       Impact factor: 6.150

5.  De novo mutations of SETBP1 cause Schinzel-Giedion syndrome.

Authors:  Alexander Hoischen; Bregje W M van Bon; Christian Gilissen; Peer Arts; Bart van Lier; Marloes Steehouwer; Petra de Vries; Rick de Reuver; Nienke Wieskamp; Geert Mortier; Koen Devriendt; Marta Z Amorim; Nicole Revencu; Alexa Kidd; Mafalda Barbosa; Anne Turner; Janine Smith; Christina Oley; Alex Henderson; Ian M Hayes; Elizabeth M Thompson; Han G Brunner; Bert B A de Vries; Joris A Veltman
Journal:  Nat Genet       Date:  2010-05-02       Impact factor: 38.330

Review 6.  Deciphering genetic disease in the genomic era: the model of GnRH deficiency.

Authors:  Gerasimos P Sykiotis; Nelly Pitteloud; Stephanie B Seminara; Ursula B Kaiser; William F Crowley
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7.  Outcome of array CGH analysis for 255 subjects with intellectual disability and search for candidate genes using bioinformatics.

Authors:  Y Qiao; C Harvard; C Tyson; X Liu; C Fawcett; P Pavlidis; J J A Holden; M E S Lewis; E Rajcan-Separovic
Journal:  Hum Genet       Date:  2010-05-29       Impact factor: 4.132

Review 8.  Role of histone methylation and demethylation in adipogenesis and obesity.

Authors:  Masashi Okamura; Takeshi Inagaki; Toshiya Tanaka; Juro Sakai
Journal:  Organogenesis       Date:  2010 Jan-Mar       Impact factor: 2.500

9.  Expression profiling during ocular development identifies 2 Nlz genes with a critical role in optic fissure closure.

Authors:  Jacob D Brown; Sunit Dutta; Kapil Bharti; Robert F Bonner; Peter J Munson; Igor B Dawid; Amana L Akhtar; Ighovie F Onojafe; Ramakrishna P Alur; Jeffrey M Gross; J Fielding Hejtmancik; Xiaodong Jiao; Wai-Yee Chan; Brian P Brooks
Journal:  Proc Natl Acad Sci U S A       Date:  2009-01-26       Impact factor: 11.205

10.  Missense variants in the chromatin remodeler CHD1 are associated with neurodevelopmental disability.

Authors:  Genay O Pilarowski; Hilary J Vernon; Carolyn D Applegate; Leandros Boukas; Megan T Cho; Christina A Gurnett; Paul J Benke; Erin Beaver; Jennifer M Heeley; Livija Medne; Ian D Krantz; Meron Azage; Dmitriy Niyazov; Lindsay B Henderson; Ingrid M Wentzensen; Berivan Baskin; Maria J Guillen Sacoto; Gregory D Bowman; Hans T Bjornsson
Journal:  J Med Genet       Date:  2017-09-02       Impact factor: 6.318
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