Literature DB >> 20346423

Array-CGH detection of a de novo 2.8 Mb deletion in 2q24.2-->q24.3 in a girl with autistic features and developmental delay.

Chih-Ping Chen1, Shuan-Pei Lin, Schu-Rern Chern, Yann-Jang Chen, Fuu-Jen Tsai, Pei-Chen Wu, Wayseen Wang.   

Abstract

We report a 3 years and 4 months old girl with autistic features, developmental delay, mental retardation, language impairment and dysmorphic features, carrying a 2.8 Mb de novo deletion of chromosome 2q24.2-->q24.3 detected by array-CGH. This region contains two neuronal voltage-gated sodium channel genes SCN2A and SCN3A. Copyright 2010 Elsevier Masson SAS. All rights reserved.

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Year:  2010        PMID： 20346423     DOI： 10.1016/j.ejmg.2010.03.006

Source DB:  PubMed          Journal:  Eur J Med Genet        ISSN： 1769-7212            Impact factor:   2.708


  12 in total

1.  Detection of clinically relevant exonic copy-number changes by array CGH.

Authors:  Philip M Boone; Carlos A Bacino; Chad A Shaw; Patricia A Eng; Patricia M Hixson; Amber N Pursley; Sung-Hae L Kang; Yaping Yang; Joanna Wiszniewska; Beata A Nowakowska; Daniela del Gaudio; Zhilian Xia; Gayle Simpson-Patel; LaDonna L Immken; James B Gibson; Anne C-H Tsai; Jennifer A Bowers; Tyler E Reimschisel; Christian P Schaaf; Lorraine Potocki; Fernando Scaglia; Tomasz Gambin; Maciej Sykulski; Magdalena Bartnik; Katarzyna Derwinska; Barbara Wisniowiecka-Kowalnik; Seema R Lalani; Frank J Probst; Weimin Bi; Arthur L Beaudet; Ankita Patel; James R Lupski; Sau Wai Cheung; Pawel Stankiewicz
Journal:  Hum Mutat       Date:  2010-11-02       Impact factor: 4.878

Review 2.  Autism spectrum disorder and epilepsy: Disorders with a shared biology.

Authors:  Bo Hoon Lee; Tristram Smith; Alex R Paciorkowski
Journal:  Epilepsy Behav       Date:  2015-04-19       Impact factor: 2.937

3.  A mosaic 2q24.2 deletion narrows the critical region to a 0.4 Mb interval that includes TBR1, TANK, and PSMD14.

Authors:  Lindsay C Burrage; Tanya N Eble; Patricia M Hixson; Erin K Roney; Sau W Cheung; Luis M Franco
Journal:  Am J Med Genet A       Date:  2013-02-26       Impact factor: 2.802

4.  Investigation of TBR1 Hemizygosity: Four Individuals with 2q24 Microdeletions.

Authors:  R N Traylor; W B Dobyns; J A Rosenfeld; P Wheeler; J E Spence; A M Bandholz; E V Bawle; E P Carmany; C M Powell; B Hudson; R A Schultz; L G Shaffer; B C Ballif
Journal:  Mol Syndromol       Date:  2012-08-23

Review 5.  Channelopathy pathogenesis in autism spectrum disorders.

Authors:  Galina Schmunk; J Jay Gargus
Journal:  Front Genet       Date:  2013-11-05       Impact factor: 4.599

6.  Quantitative genome-wide association study of six phenotypic subdomains identifies novel genome-wide significant variants in autism spectrum disorder.

Authors:  Christine M Freitag; Andreas G Chiocchetti; Afsheen Yousaf; Regina Waltes; Denise Haslinger; Sabine M Klauck; Eftichia Duketis; Michael Sachse; Anette Voran; Monica Biscaldi; Martin Schulte-Rüther; Sven Cichon; Markus Nöthen; Jörg Ackermann; Ina Koch
Journal:  Transl Psychiatry       Date:  2020-07-05       Impact factor: 6.222

7.  Clinical application of exome sequencing in undiagnosed genetic conditions.

Authors:  Anna C Need; Vandana Shashi; Yuki Hitomi; Kelly Schoch; Kevin V Shianna; Marie T McDonald; Miriam H Meisler; David B Goldstein
Journal:  J Med Genet       Date:  2012-05-11       Impact factor: 6.318

8.  Major channels involved in neuropsychiatric disorders and therapeutic perspectives.

Authors:  Paola Imbrici; Diana Conte Camerino; Domenico Tricarico
Journal:  Front Genet       Date:  2013-05-07       Impact factor: 4.599

9.  Identification of rare DNA sequence variants in high-risk autism families and their prevalence in a large case/control population.

Authors:  Nori Matsunami; Charles H Hensel; Lisa Baird; Jeff Stevens; Brith Otterud; Tami Leppert; Tena Varvil; Dexter Hadley; Joseph T Glessner; Renata Pellegrino; Cecilia Kim; Kelly Thomas; Fengxiang Wang; Frederick G Otieno; Karen Ho; Gerald B Christensen; Dongying Li; Rytis Prekeris; Christophe G Lambert; Hakon Hakonarson; Mark F Leppert
Journal:  Mol Autism       Date:  2014-01-27       Impact factor: 7.509

10.  Heterozygous deletion of SCN2A and SCN3A in a patient with autism spectrum disorder and Tourette syndrome: a case report.

Authors:  Kathrin Nickel; Ludger Tebartz van Elst; Katharina Domschke; Birgitta Gläser; Friedrich Stock; Dominique Endres; Simon Maier; Andreas Riedel
Journal:  BMC Psychiatry       Date:  2018-08-02       Impact factor: 3.630
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