Literature DB >> 19556021

The genetic landscape of intellectual disability arising from chromosome X.

Jozef Gécz1, Cheryl Shoubridge, Mark Corbett.   

Abstract

X-linked mental retardation (XLMR) or intellectual disability (ID) is a common, clinically complex and genetically heterogeneous disease arising from many mutations along the X chromosome. It affects between 1/600-1/1000 males and a substantial number of females. Research during the past decade has identified >90 different XLMR genes, affecting a wide range of cellular processes. Many more genes remain uncharacterized, especially for the non-syndromic XLMR forms. Currently, approximately 11% of X-chromosome genes are implicated in XLMR; however, apart from a few notable exceptions, most contribute individually to <0.1% of the total landscape, which arguably remains only about half complete. There remain many hills to climb and valleys to cross before the ID landscape is fully triangulated.

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Year:  2009        PMID: 19556021     DOI: 10.1016/j.tig.2009.05.002

Source DB:  PubMed          Journal:  Trends Genet        ISSN: 0168-9525            Impact factor:   11.639


  75 in total

1.  A missense mutation in CLIC2 associated with intellectual disability is predicted by in silico modeling to affect protein stability and dynamics.

Authors:  Shawn Witham; Kyoko Takano; Charles Schwartz; Emil Alexov
Journal:  Proteins       Date:  2011-05-31

2.  Haploinsufficiency of ARID1B, a member of the SWI/SNF-a chromatin-remodeling complex, is a frequent cause of intellectual disability.

Authors:  Juliane Hoyer; Arif B Ekici; Sabine Endele; Bernt Popp; Christiane Zweier; Antje Wiesener; Eva Wohlleber; Andreas Dufke; Eva Rossier; Corinna Petsch; Markus Zweier; Ina Göhring; Alexander M Zink; Gudrun Rappold; Evelin Schröck; Dagmar Wieczorek; Olaf Riess; Hartmut Engels; Anita Rauch; André Reis
Journal:  Am J Hum Genet       Date:  2012-03-09       Impact factor: 11.025

3.  Female human iPSCs retain an inactive X chromosome.

Authors:  Jason Tchieu; Edward Kuoy; Mark H Chin; Hung Trinh; Michaela Patterson; Sean P Sherman; Otaren Aimiuwu; Anne Lindgren; Shahrad Hakimian; Jerome A Zack; Amander T Clark; April D Pyle; William E Lowry; Kathrin Plath
Journal:  Cell Stem Cell       Date:  2010-08-19       Impact factor: 24.633

4.  XLID-causing mutations and associated genes challenged in light of data from large-scale human exome sequencing.

Authors:  Amélie Piton; Claire Redin; Jean-Louis Mandel
Journal:  Am J Hum Genet       Date:  2013-07-18       Impact factor: 11.025

5.  The XLID protein PQBP1 and the GTPase Dynamin 2 define a signaling link that orchestrates ciliary morphogenesis in postmitotic neurons.

Authors:  Yoshiho Ikeuchi; Luis de la Torre-Ubieta; Takahiko Matsuda; Hanno Steen; Hitoshi Okazawa; Azad Bonni
Journal:  Cell Rep       Date:  2013-08-29       Impact factor: 9.423

6.  Familial cosegregation of rare genetic variants with disease in complex disorders.

Authors:  Ingo Helbig; Susan E Hodge; Ruth Ottman
Journal:  Eur J Hum Genet       Date:  2012-09-26       Impact factor: 4.246

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

Authors:  Cheryl Shoubridge; 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
Journal:  Nat Genet       Date:  2010-05-16       Impact factor: 38.330

8.  CUL4B: trash talking at chromatin.

Authors:  Erin M Green; Or Gozani
Journal:  Mol Cell       Date:  2011-08-05       Impact factor: 17.970

9.  Common variants on Xq28 conferring risk of schizophrenia in Han Chinese.

Authors:  Emily H M Wong; Hon-Cheong So; Miaoxin Li; Quang Wang; Amy W Butler; Basil Paul; Hei-Man Wu; Tomy C K Hui; Siu-Chung Choi; Man-Ting So; Maria-Mercè Garcia-Barcelo; Grainne M McAlonan; Eric Y H Chen; Eric F C Cheung; Raymond C K Chan; Shaun M Purcell; Stacey S Cherny; Ronald R L Chen; Tao Li; Pak-Chung Sham
Journal:  Schizophr Bull       Date:  2013-09-16       Impact factor: 9.306

10.  eIF2γ mutation that disrupts eIF2 complex integrity links intellectual disability to impaired translation initiation.

Authors:  Guntram Borck; Byung-Sik Shin; Barbara Stiller; Aviva Mimouni-Bloch; Holger Thiele; Joo-Ran Kim; Meghna Thakur; Cindy Skinner; Lara Aschenbach; Pola Smirin-Yosef; Adi Har-Zahav; Gudrun Nürnberg; Janine Altmüller; Peter Frommolt; Kay Hofmann; Osnat Konen; Peter Nürnberg; Arnold Munnich; Charles E Schwartz; Doron Gothelf; Laurence Colleaux; Thomas E Dever; Christian Kubisch; Lina Basel-Vanagaite
Journal:  Mol Cell       Date:  2012-10-11       Impact factor: 17.970

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