Literature DB >> 20473311

Mutations in the guanine nucleotide exchange factor gene IQSEC2 cause nonsyndromic intellectual disability.

Cheryl Shoubridge1, Patrick S Tarpey, Fatima Abidi, Sarah L Ramsden, Sinitdhorn Rujirabanjerd, Jessica A Murphy, Jackie Boyle, Marie Shaw, Alison Gardner, Anne Proos, Helen Puusepp, F Lucy Raymond, Charles E Schwartz, Roger E Stevenson, Gill Turner, Michael Field, Randall S Walikonis, Robert J Harvey, Anna Hackett, P Andrew Futreal, Michael R Stratton, Jozef Gécz.   

Abstract

The first family identified as having a nonsyndromic intellectual disability was mapped in 1988. Here we show that a mutation of IQSEC2, encoding a guanine nucleotide exchange factor for the ADP-ribosylation factor family of small GTPases, caused this disorder. In addition to MRX1, IQSEC2 mutations were identified in three other families with X-linked intellectual disability. This discovery was made possible by systematic and unbiased X chromosome exome resequencing.

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Year:  2010        PMID： 20473311      PMCID： PMC3632837          DOI： 10.1038/ng.588

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


  15 in total

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Authors:  Jessica A Murphy; Ole N Jensen; Randall S Walikonis
Journal:  Brain Res       Date:  2006-10-11       Impact factor: 3.252

2.  A non-syndromal form of X-linked mental retardation (XLMR) is linked to DXS14.

Authors:  G K Suthers; G Turner; J C Mulley
Journal:  Am J Med Genet       Date:  1988 May-Jun

3.  Ca2+ regulates calmodulin binding to IQ motifs in IRS-1.

Authors:  H G Munshi; D J Burks; J L Joyal; M F White; D B Sacks
Journal:  Biochemistry       Date:  1996-12-10       Impact factor: 3.162

Review 4.  Nomenclature guidelines for X-linked mental retardation.

Authors:  J C Mulley; B Kerr; R Stevenson; H Lubs
Journal:  Am J Med Genet       Date:  1992 Apr 15-May 1

5.  IQ-ArfGEF/BRAG1 is a guanine nucleotide exchange factor for Arf6 that interacts with PSD-95 at postsynaptic density of excitatory synapses.

Authors:  Hiroyuki Sakagami; Masashi Sanda; Masahiro Fukaya; Taisuke Miyazaki; Jun Sukegawa; Teruyuki Yanagisawa; Tatsuo Suzuki; Kohji Fukunaga; Masahiko Watanabe; Hisatake Kondo
Journal:  Neurosci Res       Date:  2007-11-17       Impact factor: 3.304

6.  Correction of fragile X syndrome in mice.

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Review 7.  Regulation of Arf activation: the Sec7 family of guanine nucleotide exchange factors.

Authors:  James E Casanova
Journal:  Traffic       Date:  2007-09-10       Impact factor: 6.215

8.  A glutamic finger in the guanine nucleotide exchange factor ARNO displaces Mg2+ and the beta-phosphate to destabilize GDP on ARF1.

Authors:  S Béraud-Dufour; S Robineau; P Chardin; S Paris; M Chabre; J Cherfils; B Antonny
Journal:  EMBO J       Date:  1998-07-01       Impact factor: 11.598

9.  Disruption of the IQSEC2 transcript in a female with X;autosome translocation t(X;20)(p11.2;q11.2) and a phenotype resembling X-linked infantile spasms (ISSX) syndrome.

Authors:  Manuela Morleo; Daniela Iaconis; David Chitayat; Ivana Peluso; Rosalia Marzella; Alessandra Renieri; Francesca Mari; Brunella Franco
Journal:  Mol Med Rep       Date:  2008 Jan-Feb       Impact factor: 2.952

10.  A systematic, large-scale resequencing screen of X-chromosome coding exons in mental retardation.

Authors:  Patrick S Tarpey; Raffaella Smith; Erin Pleasance; Annabel Whibley; Sarah Edkins; Claire Hardy; Sarah O'Meara; Calli Latimer; Ed Dicks; Andrew Menzies; Phil Stephens; Matt Blow; Chris Greenman; Yali Xue; Chris Tyler-Smith; Deborah Thompson; Kristian Gray; Jenny Andrews; Syd Barthorpe; Gemma Buck; Jennifer Cole; Rebecca Dunmore; David Jones; Mark Maddison; Tatiana Mironenko; Rachel Turner; Kelly Turrell; Jennifer Varian; Sofie West; Sara Widaa; Paul Wray; Jon Teague; Adam Butler; Andrew Jenkinson; Mingming Jia; David Richardson; Rebecca Shepherd; Richard Wooster; M Isabel Tejada; Francisco Martinez; Gemma Carvill; Rene Goliath; Arjan P M de Brouwer; Hans van Bokhoven; Hilde Van Esch; Jamel Chelly; Martine Raynaud; Hans-Hilger Ropers; Fatima E Abidi; Anand K Srivastava; James Cox; Ying Luo; Uma Mallya; Jenny Moon; Josef Parnau; Shehla Mohammed; John L Tolmie; Cheryl Shoubridge; Mark Corbett; Alison Gardner; Eric Haan; Sinitdhorn Rujirabanjerd; Marie Shaw; Lucianne Vandeleur; Tod Fullston; Douglas F Easton; Jackie Boyle; Michael Partington; Anna Hackett; Michael Field; Cindy Skinner; Roger E Stevenson; Martin Bobrow; Gillian Turner; Charles E Schwartz; Jozef Gecz; F Lucy Raymond; P Andrew Futreal; Michael R Stratton
Journal:  Nat Genet       Date:  2009-04-19       Impact factor: 38.330
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  60 in total

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2.  Another locus, a new method.

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Journal:  Brain       Date:  2010-12       Impact factor: 13.501

3.  A novel splicing mutation in the IQSEC2 gene that modulates the phenotype severity in a family with intellectual disability.

Authors:  Irene Madrigal; Maria Isabel Alvarez-Mora; Jordi Rosell; Laia Rodríguez-Revenga; Olof Karlberg; Sascha Sauer; Ann-Christine Syvänen; Montserrat Mila
Journal:  Eur J Hum Genet       Date:  2016-01-06       Impact factor: 4.246

4.  Next-generation sequencing in X-linked intellectual disability.

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5.  A nonsense variant in HERC1 is associated with intellectual disability, megalencephaly, thick corpus callosum and cerebellar atrophy.

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Journal:  Eur J Hum Genet       Date:  2015-07-08       Impact factor: 4.246

6.  Subtle functional defects in the Arf-specific guanine nucleotide exchange factor IQSEC2 cause non-syndromic X-linked intellectual disability.

Authors:  Cheryl Shoubridge; Randall S Walikonis; Jozef Gécz; Robert J Harvey
Journal:  Small GTPases       Date:  2010-09

Review 7.  The BRAG/IQSec family of Arf GEFs.

Authors:  Ryan S D'Souza; James E Casanova
Journal:  Small GTPases       Date:  2016-10-14

Review 8.  Seizures and X-linked intellectual disability.

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Journal:  Eur J Med Genet       Date:  2012-02-08       Impact factor: 2.708

9.  Mutations in epilepsy and intellectual disability genes in patients with features of Rett syndrome.

Authors:  Heather E Olson; Dimira Tambunan; Christopher LaCoursiere; Marti Goldenberg; Rebecca Pinsky; Emilie Martin; Eugenia Ho; Omar Khwaja; Walter E Kaufmann; Annapurna Poduri
Journal:  Am J Med Genet A       Date:  2015-04-25       Impact factor: 2.802

Review 10.  Allosteric regulation of Arf GTPases and their GEFs at the membrane interface.

Authors:  Agata Nawrotek; Mahel Zeghouf; Jacqueline Cherfils
Journal:  Small GTPases       Date:  2016-07-22
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