Literature DB >> 27617123

Next-Generation Sequencing in Intellectual Disability.

Gemma L Carvill1, Heather C Mefford1.   

Abstract

Next-generation sequencing technologies have revolutionized gene discovery in patients with intellectual disability (ID) and led to an unprecedented expansion in the number of genes implicated in this disorder. We discuss the strategies that have been used to identify these novel genes for both syndromic and nonsyndromic ID and highlight the phenotypic and genetic heterogeneity that underpin this condition. Finally, we discuss the future of defining the genetic etiology of ID, including the role of whole-genome sequencing, mosaicism, and the importance of diagnostic testing in ID.

Entities:  

Keywords:  copy number variations; de novo mutations; intellectual disability; next generation sequencing

Year:  2015        PMID： 27617123      PMCID： PMC4918717          DOI： 10.1055/s-0035-1564439

Source DB:  PubMed          Journal:  J Pediatr Genet        ISSN： 2146-460X


  53 in total

1.  Mutations in MEF2C from the 5q14.3q15 microdeletion syndrome region are a frequent cause of severe mental retardation and diminish MECP2 and CDKL5 expression.

Authors:  Markus Zweier; Anne Gregor; Christiane Zweier; Hartmut Engels; Heinrich Sticht; Eva Wohlleber; Emilia K Bijlsma; Susan E Holder; Martin Zenker; Eva Rossier; Ute Grasshoff; Diana S Johnson; Lisa Robertson; Helen V Firth; Arif B Ekici; André Reis; Anita Rauch
Journal:  Hum Mutat       Date:  2010-06       Impact factor: 4.878

2.  Dominant mutations in KAT6A cause intellectual disability with recognizable syndromic features.

Authors:  Emma Tham; Anna Lindstrand; Avni Santani; Helena Malmgren; Addie Nesbitt; Holly A Dubbs; Elaine H Zackai; Michael J Parker; Francisca Millan; Kenneth Rosenbaum; Golder N Wilson; Ann Nordgren
Journal:  Am J Hum Genet       Date:  2015-02-26       Impact factor: 11.025

3.  Single molecule molecular inversion probes for targeted, high-accuracy detection of low-frequency variation.

Authors:  Joseph B Hiatt; Colin C Pritchard; Stephen J Salipante; Brian J O'Roak; Jay Shendure
Journal:  Genome Res       Date:  2013-02-04       Impact factor: 9.043

4.  High rate of mosaicism in individuals with Cornelia de Lange syndrome.

Authors:  Sylvia A Huisman; Egbert J W Redeker; Saskia M Maas; Marcel M Mannens; Raoul C M Hennekam
Journal:  J Med Genet       Date:  2013-03-15       Impact factor: 6.318

5.  Somatic activation of AKT3 causes hemispheric developmental brain malformations.

Authors:  Annapurna Poduri; Gilad D Evrony; Xuyu Cai; Princess Christina Elhosary; Rameen Beroukhim; Maria K Lehtinen; L Benjamin Hills; Erin L Heinzen; Anthony Hill; R Sean Hill; Brenda J Barry; Blaise F D Bourgeois; James J Riviello; A James Barkovich; Peter M Black; Keith L Ligon; Christopher A Walsh
Journal:  Neuron       Date:  2012-04-12       Impact factor: 17.173

6.  Mutations in PIGO, a member of the GPI-anchor-synthesis pathway, cause hyperphosphatasia with mental retardation.

Authors:  Peter M Krawitz; Yoshiko Murakami; Jochen Hecht; Ulrike Krüger; Susan E Holder; Geert R Mortier; Barbara Delle Chiaie; Elfride De Baere; Miles D Thompson; Tony Roscioli; Szymon Kielbasa; Taroh Kinoshita; Stefan Mundlos; Peter N Robinson; Denise Horn
Journal:  Am J Hum Genet       Date:  2012-06-07       Impact factor: 11.025

7.  Somatic mosaic activating mutations in PIK3CA cause CLOVES syndrome.

Authors:  Kyle C Kurek; Valerie L Luks; Ugur M Ayturk; Ahmad I Alomari; Steven J Fishman; Samantha A Spencer; John B Mulliken; Margot E Bowen; Guilherme L Yamamoto; Harry P W Kozakewich; Matthew L Warman
Journal:  Am J Hum Genet       Date:  2012-05-31       Impact factor: 11.025

8.  Effectiveness of exome and genome sequencing guided by acuity of illness for diagnosis of neurodevelopmental disorders.

Authors:  Sarah E Soden; Carol J Saunders; Laurel K Willig; Emily G Farrow; Laurie D Smith; Josh E Petrikin; Jean-Baptiste LePichon; Neil A Miller; Isabelle Thiffault; Darrell L Dinwiddie; Greyson Twist; Aaron Noll; Bryce A Heese; Lee Zellmer; Andrea M Atherton; Ahmed T Abdelmoity; Nicole Safina; Sarah S Nyp; Britton Zuccarelli; Ingrid A Larson; Ann Modrcin; Suzanne Herd; Mitchell Creed; Zhaohui Ye; Xuan Yuan; Robert A Brodsky; Stephen F Kingsmore
Journal:  Sci Transl Med       Date:  2014-12-03       Impact factor: 17.956

9.  De novo mutations in epileptic encephalopathies.

Authors:  Andrew S Allen; Samuel F Berkovic; Patrick Cossette; Norman Delanty; Dennis Dlugos; Evan E Eichler; Michael P Epstein; Tracy Glauser; David B Goldstein; Yujun Han; Erin L Heinzen; Yuki Hitomi; Katherine B Howell; Michael R Johnson; Ruben Kuzniecky; Daniel H Lowenstein; Yi-Fan Lu; Maura R Z Madou; Anthony G Marson; Heather C Mefford; Sahar Esmaeeli Nieh; Terence J O'Brien; Ruth Ottman; Slavé Petrovski; Annapurna Poduri; Elizabeth K Ruzzo; Ingrid E Scheffer; Elliott H Sherr; Christopher J Yuskaitis; Bassel Abou-Khalil; Brian K Alldredge; Jocelyn F Bautista; Samuel F Berkovic; Alex Boro; Gregory D Cascino; Damian Consalvo; Patricia Crumrine; Orrin Devinsky; Dennis Dlugos; Michael P Epstein; Miguel Fiol; Nathan B Fountain; Jacqueline French; Daniel Friedman; Eric B Geller; Tracy Glauser; Simon Glynn; Sheryl R Haut; Jean Hayward; Sandra L Helmers; Sucheta Joshi; Andres Kanner; Heidi E Kirsch; Robert C Knowlton; Eric H Kossoff; Rachel Kuperman; Ruben Kuzniecky; Daniel H Lowenstein; Shannon M McGuire; Paul V Motika; Edward J Novotny; Ruth Ottman; Juliann M Paolicchi; Jack M Parent; Kristen Park; Annapurna Poduri; Ingrid E Scheffer; Renée A Shellhaas; Elliott H Sherr; Jerry J Shih; Rani Singh; Joseph Sirven; Michael C Smith; Joseph Sullivan; Liu Lin Thio; Anu Venkat; Eileen P G Vining; Gretchen K Von Allmen; Judith L Weisenberg; Peter Widdess-Walsh; Melodie R Winawer
Journal:  Nature       Date:  2013-08-11       Impact factor: 49.962

10.  Refining analyses of copy number variation identifies specific genes associated with developmental delay.

Authors:  Bradley P Coe; Kali Witherspoon; Jill A Rosenfeld; Bregje W M van Bon; Anneke T Vulto-van Silfhout; Paolo Bosco; Kathryn L Friend; Carl Baker; Serafino Buono; Lisenka E L M Vissers; Janneke H Schuurs-Hoeijmakers; Alex Hoischen; Rolph Pfundt; Nik Krumm; Gemma L Carvill; Deana Li; David Amaral; Natasha Brown; Paul J Lockhart; Ingrid E Scheffer; Antonino Alberti; Marie Shaw; Rosa Pettinato; Raymond Tervo; Nicole de Leeuw; Margot R F Reijnders; Beth S Torchia; Hilde Peeters; Brian J O'Roak; Marco Fichera; Jayne Y Hehir-Kwa; Jay Shendure; Heather C Mefford; Eric Haan; Jozef Gécz; Bert B A de Vries; Corrado Romano; Evan E Eichler
Journal:  Nat Genet       Date:  2014-09-14       Impact factor: 38.330
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  9 in total

1.  Novel exon-skipping variant disrupting the basic domain of HCFC1 causes intellectual disability without metabolic abnormalities in both male and female patients.

Authors:  Parith Wongkittichote; Daniel J Wegner; Marwan S Shinawi
Journal:  J Hum Genet       Date:  2021-01-30       Impact factor: 3.172

2.  Mutations in NSD1 and NFIX in Three Patients with Clinical Features of Sotos Syndrome and Malan Syndrome.

Authors:  Yongping Lu; Pin Fee Chong; Ryutaro Kira; Toshiyuki Seto; Yumiko Ondo; Keiko Shimojima; Toshiyuki Yamamoto
Journal:  J Pediatr Genet       Date:  2017-05-16

3.  The Pathophysiology of Rett Syndrome With a Focus on Breathing Dysfunctions.

Authors:  Jan-Marino Ramirez; Marlusa Karlen-Amarante; Jia-Der Ju Wang; Nicholas E Bush; Michael S Carroll; Debra E Weese-Mayer; Alyssa Huff
Journal:  Physiology (Bethesda)       Date:  2020-11-01

4.  Spectrum of KV 2.1 Dysfunction in KCNB1-Associated Neurodevelopmental Disorders.

Authors:  Seok Kyu Kang; Carlos G Vanoye; Sunita N Misra; Dennis M Echevarria; Jeffrey D Calhoun; John B O'Connor; Katarina L Fabre; Dianalee McKnight; Laurie Demmer; Paula Goldenberg; Lauren E Grote; Isabelle Thiffault; Carol Saunders; Kevin A Strauss; Ali Torkamani; Jasper van der Smagt; Koen van Gassen; Robert P Carson; Jullianne Diaz; Eyby Leon; Joseph E Jacher; Mark C Hannibal; Jessica Litwin; Neil R Friedman; Allison Schreiber; Bryan Lynch; Annapurna Poduri; Eric D Marsh; Ethan M Goldberg; John J Millichap; Alfred L George; Jennifer A Kearney
Journal:  Ann Neurol       Date:  2019-10-24       Impact factor: 10.422

5.  ITSN1: a novel candidate gene involved in autosomal dominant neurodevelopmental disorder spectrum.

Authors:  Ange-Line Bruel; Antonio Vitobello; Isabelle Thiffault; Linda Manwaring; Marcia Willing; Pankaj B Agrawal; Allan Bayat; Thomas M Kitzler; Catherine A Brownstein; Casie A Genetti; Joseph Gonzalez-Heydrich; Parul Jayakar; Jacob W Zyskind; Zehua Zhu; Clemence Vachet; Gena R Wilson; Brianna Pruniski; Anne-Marie Goyette; Yannis Duffourd; Christel Thauvin-Robinet; Christophe Philippe; Laurence Faivre
Journal:  Eur J Hum Genet       Date:  2021-10-28       Impact factor: 4.246

6.  Possible Phenotypic Consequences of Structural Differences in Idic(15) in a Small Cohort of Patients.

Authors:  Márta Czakó; Ágnes Till; András Szabó; Réka Ripszám; Béla Melegh; Kinga Hadzsiev
Journal:  Int J Mol Sci       Date:  2019-10-05       Impact factor: 5.923

7.  Urine Organic Acids as Metabolic Indicators for Global Developmental Delay/Intellectual Disability in Chinese Children.

Authors:  Baiyu Chen; Yalan Zhan; Miriam Kessi; Shimeng Chen; Juan Xiong; Xiaolu Deng; Lifen Yang; Jing Peng; Fei Yin; Fang He
Journal:  Front Mol Biosci       Date:  2021-12-22

8.  Prioritized High-Confidence Risk Genes for Intellectual Disability Reveal Molecular Convergence During Brain Development.

Authors:  Zhenwei Liu; Na Zhang; Yu Zhang; Yaoqiang Du; Tao Zhang; Zhongshan Li; Jinyu Wu; Xiaobing Wang
Journal:  Front Genet       Date:  2018-09-18       Impact factor: 4.599

9.  Bioinformatics Analysis Revealed Novel 3'UTR Variants Associated with Intellectual Disability.

Authors:  Junmeng Yang; Anna Liu; Isabella He; Yongsheng Bai
Journal:  Genes (Basel)       Date:  2020-08-26       Impact factor: 4.096
  9 in total

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