Literature DB >> 26503795

Genetic studies in intellectual disability and related disorders.

Lisenka E L M Vissers1, Christian Gilissen1, Joris A Veltman1,2.   

Abstract

Genetic factors play a major part in intellectual disability (ID), but genetic studies have been complicated for a long time by the extreme clinical and genetic heterogeneity. Recently, progress has been made using different next-generation sequencing approaches in combination with new functional readout systems. This approach has provided novel insights into the biological pathways underlying ID, improved the diagnostic process and offered new targets for therapy. In this Review, we highlight the insights obtained from recent studies on the role of genetics in ID and its impact on diagnosis, prognosis and therapy. We also discuss the future directions of genetics research for ID and related neurodevelopmental disorders.

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Year:  2015        PMID： 26503795     DOI： 10.1038/nrg3999

Source DB:  PubMed          Journal:  Nat Rev Genet        ISSN： 1471-0056            Impact factor:   53.242


  119 in total

1.  De novo nonsense mutations in ASXL1 cause Bohring-Opitz syndrome.

Authors:  Alexander Hoischen; Bregje W M van Bon; Benjamín Rodríguez-Santiago; Christian Gilissen; Lisenka E L M Vissers; Petra de Vries; Irene Janssen; Bart van Lier; Rob Hastings; Sarah F Smithson; Ruth Newbury-Ecob; Susanne Kjaergaard; Judith Goodship; Ruth McGowan; Deborah Bartholdi; Anita Rauch; Maarit Peippo; Jan M Cobben; Dagmar Wieczorek; Gabriele Gillessen-Kaesbach; Joris A Veltman; Han G Brunner; Bert B B A de Vries
Journal:  Nat Genet       Date:  2011-06-26       Impact factor: 38.330

2.  Neurodevelopmental and neuropsychiatric disorders represent an interconnected molecular system.

Authors:  A S Cristino; S M Williams; Z Hawi; J-Y An; M A Bellgrove; C E Schwartz; L da F Costa; C Claudianos
Journal:  Mol Psychiatry       Date:  2013-02-26       Impact factor: 15.992

3.  The quest for targeted therapy in fragile X syndrome.

Authors:  Shimriet Zeidler; Renate K Hukema; Rob Willemsen
Journal:  Expert Opin Ther Targets       Date:  2015-08-14       Impact factor: 6.902

Review 4.  The role of de novo mutations in the genetics of autism spectrum disorders.

Authors:  Michael Ronemus; Ivan Iossifov; Dan Levy; Michael Wigler
Journal:  Nat Rev Genet       Date:  2014-01-16       Impact factor: 53.242

Review 5.  Somatic mutation, genomic variation, and neurological disease.

Authors:  Annapurna Poduri; Gilad D Evrony; Xuyu Cai; Christopher A Walsh
Journal:  Science       Date:  2013-07-05       Impact factor: 47.728

Review 6.  The GABAA Receptor as a Therapeutic Target for Neurodevelopmental Disorders.

Authors:  Sien Braat; R Frank Kooy
Journal:  Neuron       Date:  2015-06-03       Impact factor: 17.173

7.  Parental somatic mosaicism is underrecognized and influences recurrence risk of genomic disorders.

Authors:  Ian M Campbell; Bo Yuan; Caroline Robberecht; Rolph Pfundt; Przemyslaw Szafranski; Meriel E McEntagart; Sandesh C S Nagamani; Ayelet Erez; Magdalena Bartnik; Barbara Wiśniowiecka-Kowalnik; Katie S Plunkett; Amber N Pursley; Sung-Hae L Kang; Weimin Bi; Seema R Lalani; Carlos A Bacino; Mala Vast; Karen Marks; Michael Patton; Peter Olofsson; Ankita Patel; Joris A Veltman; Sau Wai Cheung; Chad A Shaw; Lisenka E L M Vissers; Joris R Vermeesch; James R Lupski; Paweł Stankiewicz
Journal:  Am J Hum Genet       Date:  2014-07-31       Impact factor: 11.025

Review 8.  Prioritization of neurodevelopmental disease genes by discovery of new mutations.

Authors:  Alexander Hoischen; Niklas Krumm; Evan E Eichler
Journal:  Nat Neurosci       Date:  2014-05-27       Impact factor: 24.884

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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  215 in total

1.  Novel GNB1 mutations disrupt assembly and function of G protein heterotrimers and cause global developmental delay in humans.

Authors:  Katja Lohmann; Ikuo Masuho; Dipak N Patil; Hauke Baumann; Eva Hebert; Sofia Steinrücke; Daniel Trujillano; Nickolas K Skamangas; Valerija Dobricic; Irina Hüning; Gabriele Gillessen-Kaesbach; Ana Westenberger; Dusanka Savic-Pavicevic; Alexander Münchau; Gabriela Oprea; Christine Klein; Arndt Rolfs; Kirill A Martemyanov
Journal:  Hum Mol Genet       Date:  2017-03-15       Impact factor: 6.150

2.  Screening Human Embryos for Polygenic Traits Has Limited Utility.

Authors:  Ehud Karavani; Or Zuk; Danny Zeevi; Nir Barzilai; Nikos C Stefanis; Alex Hatzimanolis; Nikolaos Smyrnis; Dimitrios Avramopoulos; Leonid Kruglyak; Gil Atzmon; Max Lam; Todd Lencz; Shai Carmi
Journal:  Cell       Date:  2019-11-21       Impact factor: 41.582

3.  Clinical genomics expands the morbid genome of intellectual disability and offers a high diagnostic yield.

Authors:  S Anazi; S Maddirevula; E Faqeih; H Alsedairy; F Alzahrani; H E Shamseldin; N Patel; M Hashem; N Ibrahim; F Abdulwahab; N Ewida; H S Alsaif; H Al Sharif; W Alamoudi; A Kentab; F A Bashiri; M Alnaser; A H AlWadei; M Alfadhel; W Eyaid; A Hashem; A Al Asmari; M M Saleh; A AlSaman; K A Alhasan; M Alsughayir; M Al Shammari; A Mahmoud; Z N Al-Hassnan; M Al-Husain; R Osama Khalil; N Abd El Meguid; A Masri; R Ali; T Ben-Omran; P El Fishway; A Hashish; A Ercan Sencicek; M State; A M Alazami; M A Salih; N Altassan; S T Arold; M Abouelhoda; S M Wakil; D Monies; R Shaheen; F S Alkuraya
Journal:  Mol Psychiatry       Date:  2016-07-19       Impact factor: 15.992

Review 4.  Brain Connectivity and Neuroimaging of Social Networks in Autism.

Authors:  Ralph-Axel Müller; Inna Fishman
Journal:  Trends Cogn Sci       Date:  2018-10-31       Impact factor: 20.229

5.  Rare De Novo Missense Variants in RNA Helicase DDX6 Cause Intellectual Disability and Dysmorphic Features and Lead to P-Body Defects and RNA Dysregulation.

Authors:  Chris Balak; Marianne Benard; Elise Schaefer; Sumaiya Iqbal; Keri Ramsey; Michèle Ernoult-Lange; Francesca Mattioli; Lorida Llaci; Véronique Geoffroy; Maité Courel; Marcus Naymik; Kristine K Bachman; Rolph Pfundt; Patrick Rump; Johanna Ter Beest; Ingrid M Wentzensen; Kristin G Monaghan; Kirsty McWalter; Ryan Richholt; Antony Le Béchec; Wayne Jepsen; Matt De Both; Newell Belnap; Anne Boland; Ignazio S Piras; Jean-François Deleuze; Szabolcs Szelinger; Hélène Dollfus; Jamel Chelly; Jean Muller; Arthur Campbell; Dennis Lal; Sampathkumar Rangasamy; Jean-Louis Mandel; Vinodh Narayanan; Matt Huentelman; Dominique Weil; Amélie Piton
Journal:  Am J Hum Genet       Date:  2019-08-15       Impact factor: 11.025

6.  Increased diagnostic and new genes identification outcome using research reanalysis of singleton exome sequencing.

Authors:  Ange-Line Bruel; Sophie Nambot; Virginie Quéré; Antonio Vitobello; Julien Thevenon; Mirna Assoum; Sébastien Moutton; Nada Houcinat; Daphné Lehalle; Nolwenn Jean-Marçais; Martin Chevarin; Thibaud Jouan; Charlotte Poë; Patrick Callier; Emilie Tisserand; Christophe Philippe; Frédéric Tran Mau Them; Yannis Duffourd; Laurence Faivre; Christel Thauvin-Robinet
Journal:  Eur J Hum Genet       Date:  2019-06-23       Impact factor: 4.246

7.  Biallelic loss of EEF1D function links heat shock response pathway to autosomal recessive intellectual disability.

Authors:  Sibel Aylin Ugur Iseri; Emrah Yucesan; Feyza Nur Tuncer; Mustafa Calik; Yesim Kesim; Gunes Altiokka Uzun; Ugur Ozbek
Journal:  J Hum Genet       Date:  2019-02-21       Impact factor: 3.172

8.  Choices, challenges, and constraints: a pragmatic examination of the limits of mental age matching in empirical research.

Authors:  N Russo; E A Kaplan-Kahn; J Wilson; A Criss; J A Burack
Journal:  Dev Psychopathol       Date:  2021-05

9.  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

10.  Biallelic variants in FBXL3 cause intellectual disability, delayed motor development and short stature.

Authors:  Muhammad Ansar; Sohail Aziz Paracha; Alessandro Serretti; Muhammad T Sarwar; Jamshed Khan; Emmanuelle Ranza; Emilie Falconnet; Justyna Iwaszkiewicz; Sayyed Fahim Shah; Azhar Ali Qaisar; Federico A Santoni; Vincent Zoete; Andre Megarbane; Jawad Ahmed; Roberto Colombo; Periklis Makrythanasis; Stylianos E Antonarakis
Journal:  Hum Mol Genet       Date:  2019-03-15       Impact factor: 6.150
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