Literature DB >> 17173049

Mutations in the gene encoding the synaptic scaffolding protein SHANK3 are associated with autism spectrum disorders.

Christelle M Durand1, Catalina Betancur, Tobias M Boeckers, Juergen Bockmann, Pauline Chaste, Fabien Fauchereau, Gudrun Nygren, Maria Rastam, I Carina Gillberg, Henrik Anckarsäter, Eili Sponheim, Hany Goubran-Botros, Richard Delorme, Nadia Chabane, Marie-Christine Mouren-Simeoni, Philippe de Mas, Eric Bieth, Bernadette Rogé, Delphine Héron, Lydie Burglen, Christopher Gillberg, Marion Leboyer, Thomas Bourgeron.   

Abstract

SHANK3 (also known as ProSAP2) regulates the structural organization of dendritic spines and is a binding partner of neuroligins; genes encoding neuroligins are mutated in autism and Asperger syndrome. Here, we report that a mutation of a single copy of SHANK3 on chromosome 22q13 can result in language and/or social communication disorders. These mutations concern only a small number of individuals, but they shed light on one gene dosage-sensitive synaptic pathway that is involved in autism spectrum disorders.

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Year:  2006        PMID： 17173049      PMCID： PMC2082049          DOI： 10.1038/ng1933

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


  15 in total

1.  Shank, a novel family of postsynaptic density proteins that binds to the NMDA receptor/PSD-95/GKAP complex and cortactin.

Authors:  S Naisbitt; E Kim; J C Tu; B Xiao; C Sala; J Valtschanoff; R J Weinberg; P F Worley; M Sheng
Journal:  Neuron       Date:  1999-07       Impact factor: 17.173

Review 2.  Genetics of autism: complex aetiology for a heterogeneous disorder.

Authors:  S E Folstein; B Rosen-Sheidley
Journal:  Nat Rev Genet       Date:  2001-12       Impact factor: 53.242

3.  Mutations of the X-linked genes encoding neuroligins NLGN3 and NLGN4 are associated with autism.

Authors:  Stéphane Jamain; Hélène Quach; Catalina Betancur; Maria Råstam; Catherine Colineaux; I Carina Gillberg; Henrik Soderstrom; Bruno Giros; Marion Leboyer; Christopher Gillberg; Thomas Bourgeron
Journal:  Nat Genet       Date:  2003-05       Impact factor: 38.330

4.  Disruption of the ProSAP2 gene in a t(12;22)(q24.1;q13.3) is associated with the 22q13.3 deletion syndrome.

Authors:  M C Bonaglia; R Giorda; R Borgatti; G Felisari; C Gagliardi; A Selicorni; O Zuffardi
Journal:  Am J Hum Genet       Date:  2001-06-18       Impact factor: 11.025

5.  The complexity of PDZ domain-mediated interactions at glutamatergic synapses: a case study on neuroligin.

Authors:  Guido Meyer; Frederique Varoqueaux; Antje Neeb; Melanie Oschlies; Nils Brose
Journal:  Neuropharmacology       Date:  2004-10       Impact factor: 5.250

6.  A forkhead-domain gene is mutated in a severe speech and language disorder.

Authors:  C S Lai; S E Fisher; J A Hurst; F Vargha-Khadem; A P Monaco
Journal:  Nature       Date:  2001-10-04       Impact factor: 49.962

7.  Terminal 22q deletion syndrome: a newly recognized cause of speech and language disability in the autism spectrum.

Authors:  Melanie A Manning; Suzanne B Cassidy; Carol Clericuzio; Athena M Cherry; Stuart Schwartz; Louanne Hudgins; Gregory M Enns; H Eugene Hoyme
Journal:  Pediatrics       Date:  2004-08       Impact factor: 7.124

Review 8.  ProSAP/Shank proteins - a family of higher order organizing molecules of the postsynaptic density with an emerging role in human neurological disease.

Authors:  Tobias M Boeckers; Jürgen Bockmann; Michael R Kreutz; Eckart D Gundelfinger
Journal:  J Neurochem       Date:  2002-06       Impact factor: 5.372

Review 9.  Searching for ways out of the autism maze: genetic, epigenetic and environmental clues.

Authors:  Antonio M Persico; Thomas Bourgeron
Journal:  Trends Neurosci       Date:  2006-06-30       Impact factor: 13.837

10.  Identification of a recurrent breakpoint within the SHANK3 gene in the 22q13.3 deletion syndrome.

Authors:  M C Bonaglia; R Giorda; E Mani; G Aceti; B-M Anderlid; A Baroncini; T Pramparo; O Zuffardi
Journal:  J Med Genet       Date:  2005-11-11       Impact factor: 6.318
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Journal:  Neuropsychopharmacology       Date:  2011-09-21       Impact factor: 7.853

2.  Deletion of densin-180 results in abnormal behaviors associated with mental illness and reduces mGluR5 and DISC1 in the postsynaptic density fraction.

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Review 3.  CNVs: harbingers of a rare variant revolution in psychiatric genetics.

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4.  Association of genetic copy number variations at 11 q14.2 with brain regional volume differences in an alcohol use disorder population.

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Journal:  Alcohol       Date:  2012-06-23       Impact factor: 2.405

Review 5.  Ras and Rap signaling in synaptic plasticity and mental disorders.

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Journal:  Neuroscientist       Date:  2010-04-29       Impact factor: 7.519

6.  Mutation screening of melatonin-related genes in patients with autism spectrum disorders.

Authors:  Lina Jonsson; Elin Ljunggren; Anna Bremer; Christin Pedersen; Mikael Landén; Kent Thuresson; Maibritt Giacobini; Jonas Melke
Journal:  BMC Med Genomics       Date:  2010-04-08       Impact factor: 3.063

7.  Contribution of SHANK3 mutations to autism spectrum disorder.

Authors:  Rainald Moessner; Christian R Marshall; James S Sutcliffe; Jennifer Skaug; Dalila Pinto; John Vincent; Lonnie Zwaigenbaum; Bridget Fernandez; Wendy Roberts; Peter Szatmari; Stephen W Scherer
Journal:  Am J Hum Genet       Date:  2007-10-16       Impact factor: 11.025

8.  Characterisation of de novo MAPK10/JNK3 truncation mutations associated with cognitive disorders in two unrelated patients.

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Journal:  Hum Genet       Date:  2013-01-18       Impact factor: 4.132

Review 9.  Pre-clinical models of neurodevelopmental disorders: focus on the cerebellum.

Authors:  Alexey V Shevelkin; Chinezimuzo Ihenatu; Mikhail V Pletnikov
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10.  Impact of human pathogenic micro-insertions and micro-deletions on post-transcriptional regulation.

Authors:  Xinjun Zhang; Hai Lin; Huiying Zhao; Yangyang Hao; Matthew Mort; David N Cooper; Yaoqi Zhou; Yunlong Liu
Journal:  Hum Mol Genet       Date:  2014-01-16       Impact factor: 6.150
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