Literature DB >> 23749164

Genetic insights into the functional elements of language.

Adam Szalontai1, Katalin Csiszar.   

Abstract

Language disorders cover a wide range of conditions with heterologous and overlapping phenotypes and complex etiologies harboring both genetic and environmental influences. Genetic approaches including the identification of genes linked to speech and language phenotypes and the characterization of normal and aberrant functions of these genes have, in recent years, unraveled complex details of molecular and cognitive mechanisms and provided valuable insight into the biological foundations of language. Consistent with this approach, we have reviewed the functional aspects of allelic variants of genes which are currently known to be either causally associated with disorders of speech and language or impact upon the spectrum of normal language ability. We have also reviewed candidate genes associated with heritable speech and language disorders. In addition, we have evaluated language phenotypes and associated genetic components in developmental syndromes that, together with a spectrum of altered language abilities, manifest various phenotypes and offer details of multifactorial determinants of language function. Data from this review have revealed a predominance of regulatory networks involved in the control of differentiation and functioning of neurons, neuronal tracks and connections among brain structures associated with both cognitive and language faculties. Our findings, furthermore, have highlighted several multifactorial determinants in overlapping speech and language phenotypes. Collectively this analysis has revealed an interconnected developmental network and a close association of the language faculty with cognitive functions, a finding that has the potential to provide insight into linguistic hypotheses defining in particular, the contribution of genetic elements to and the modular nature of the language faculty.

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Year:  2013        PMID: 23749164     DOI: 10.1007/s00439-013-1317-0

Source DB:  PubMed          Journal:  Hum Genet        ISSN: 0340-6717            Impact factor:   4.132


  212 in total

1.  12p13.33 microdeletion including ELKS/ERC1, a new locus associated with childhood apraxia of speech.

Authors:  Julien Thevenon; Patrick Callier; Joris Andrieux; Bruno Delobel; Albert David; Sylvie Sukno; Delphine Minot; Laure Mosca Anne; Nathalie Marle; Damien Sanlaville; Marlène Bonnet; Alice Masurel-Paulet; Fabienne Levy; Lorraine Gaunt; Sandra Farrell; Cédric Le Caignec; Annick Toutain; Virginie Carmignac; Francine Mugneret; Jill Clayton-Smith; Christel Thauvin-Robinet; Laurence Faivre
Journal:  Eur J Hum Genet       Date:  2012-06-20       Impact factor: 4.246

2.  Analysis of mannose 6-phosphate uncovering enzyme mutations associated with persistent stuttering.

Authors:  Wang-Sik Lee; Changsoo Kang; Dennis Drayna; Stuart Kornfeld
Journal:  J Biol Chem       Date:  2011-09-28       Impact factor: 5.157

3.  Cognitive, environmental, and linguistic predictors of syntax in fragile X syndrome and Down syndrome.

Authors:  Bruno Estigarribia; Gary E Martin; Joanne E Roberts
Journal:  J Speech Lang Hear Res       Date:  2012-04-03       Impact factor: 2.297

4.  14q12 and severe Rett-like phenotypes: new clinical insights and physical mapping of FOXG1-regulatory elements.

Authors:  Lila Allou; Laetitia Lambert; Daniel Amsallem; Eric Bieth; Patrick Edery; Anne Destrée; François Rivier; David Amor; Elizabeth Thompson; Julian Nicholl; Michael Harbord; Christophe Nemos; Aline Saunier; Aissa Moustaïne; Adeline Vigouroux; Philippe Jonveaux; Christophe Philippe
Journal:  Eur J Hum Genet       Date:  2012-06-27       Impact factor: 4.246

5.  Chiari I malformation, delayed gross motor skills, severe speech delay, and epileptiform discharges in a child with FOXP1 haploinsufficiency.

Authors:  Christopher W Carr; Daniel Moreno-De-Luca; Colette Parker; Holly H Zimmerman; Nikki Ledbetter; Christa Lese Martin; William B Dobyns; Omar A Abdul-Rahman
Journal:  Eur J Hum Genet       Date:  2010-06-23       Impact factor: 4.246

6.  Language features in a mother and daughter of a chromosome 7;13 translocation involving FOXP2.

Authors:  J Bruce Tomblin; Marlea O'Brien; Lawrence D Shriberg; Charles Williams; Jeff Murray; Shivanand Patil; Jonathan Bjork; Steve Anderson; Kirrie Ballard
Journal:  J Speech Lang Hear Res       Date:  2009-10       Impact factor: 2.297

7.  Expanding the clinical spectrum associated with defects in CNTNAP2 and NRXN1.

Authors:  Anne Gregor; Beate Albrecht; Ingrid Bader; Emilia K Bijlsma; Arif B Ekici; Hartmut Engels; Karl Hackmann; Denise Horn; Juliane Hoyer; Jakub Klapecki; Jürgen Kohlhase; Isabelle Maystadt; Sandra Nagl; Eva Prott; Sigrid Tinschert; Reinhard Ullmann; Eva Wohlleber; Geoffrey Woods; André Reis; Anita Rauch; Christiane Zweier
Journal:  BMC Med Genet       Date:  2011-08-09       Impact factor: 2.103

8.  CNTNAP2 variants affect early language development in the general population.

Authors:  A J O Whitehouse; D V M Bishop; Q W Ang; C E Pennell; S E Fisher
Journal:  Genes Brain Behav       Date:  2011-03-01       Impact factor: 3.449

9.  A role for transcription factor GTF2IRD2 in executive function in Williams-Beuren syndrome.

Authors:  Melanie A Porter; Carol Dobson-Stone; John B J Kwok; Peter R Schofield; William Beckett; May Tassabehji
Journal:  PLoS One       Date:  2012-10-31       Impact factor: 3.240

10.  Exome sequencing in sporadic autism spectrum disorders identifies severe de novo mutations.

Authors:  Brian J O'Roak; Pelagia Deriziotis; Choli Lee; Laura Vives; Jerrod J Schwartz; Santhosh Girirajan; Emre Karakoc; Alexandra P Mackenzie; Sarah B Ng; Carl Baker; Mark J Rieder; Deborah A Nickerson; Raphael Bernier; Simon E Fisher; Jay Shendure; Evan E Eichler
Journal:  Nat Genet       Date:  2011-05-15       Impact factor: 38.330

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  5 in total

1.  Modification of spectral features by nonhuman primates.

Authors:  Daniel J Weiss; Cara F Hotchkin; Susan E Parks
Journal:  Behav Brain Sci       Date:  2014-12       Impact factor: 12.579

2.  Comparative analysis reveals distinctive epigenetic features of the human cerebellum.

Authors:  Elaine E Guevara; William D Hopkins; Patrick R Hof; John J Ely; Brenda J Bradley; Chet C Sherwood
Journal:  PLoS Genet       Date:  2021-05-06       Impact factor: 5.917

3.  Regression Modeling and Meta-Analysis of Diagnostic Accuracy of SNP-Based Pathogenicity Detection Tools for UGT1A1 Gene Mutation.

Authors:  Fakher Rahim; Hamid Galehdari; Javad Mohammadi-Asl; Najmaldin Saki
Journal:  Genet Res Int       Date:  2013-08-13

Review 4.  The genetic basis of music ability.

Authors:  Yi Ting Tan; Gary E McPherson; Isabelle Peretz; Samuel F Berkovic; Sarah J Wilson
Journal:  Front Psychol       Date:  2014-06-27

5.  The analysis of genetic aberrations in children with inherited neurometabolic and neurodevelopmental disorders.

Authors:  Krystyna Szymańska; Krzysztof Szczałuba; Agnieszka Lugowska; Ewa Obersztyn; Marek Radkowski; Beata A Nowakowska; Katarzyna Kuśmierska; Jolanta Tryfon; Urszula Demkow
Journal:  Biomed Res Int       Date:  2014-05-13       Impact factor: 3.411

  5 in total

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