Literature DB >> 17120046

Homozygosity mapping in consanguineous families reveals extreme heterogeneity of non-syndromic autosomal recessive mental retardation and identifies 8 novel gene loci.

Hossein Najmabadi1, Mohammad Mahdi Motazacker, Masoud Garshasbi, Kimia Kahrizi, Andreas Tzschach, Wei Chen, Farkhondeh Behjati, Valeh Hadavi, Sahar Esmaeeli Nieh, Seyedeh Sedigheh Abedini, Reza Vazifehmand, Saghar Ghasemi Firouzabadi, Payman Jamali, Masoumeh Falah, Seyed Morteza Seifati, Annette Grüters, Steffen Lenzner, Lars R Jensen, Franz Rüschendorf, Andreas W Kuss, H Hilger Ropers.   

Abstract

Autosomal recessive gene defects are arguably the most important, but least studied genetic causes of severe cognitive dysfunction. Homozygosity mapping in 78 consanguineous Iranian families with nonsyndromic autosomal recessive mental retardation (NS-ARMR) has enabled us to determine the chromosomal localization of at least 8 novel gene loci for this condition. Our data suggest that in the Iranian population NS-ARMR is very heterogeneous, and they argue against the existence of frequent gene defects that account for more than a few percent of the cases.

Entities:  

Mesh：

Substances：

Year:  2006        PMID： 17120046     DOI： 10.1007/s00439-006-0292-0

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


  26 in total

1.  Truncating neurotrypsin mutation in autosomal recessive nonsyndromic mental retardation.

Authors:  Florence Molinari; Marlene Rio; Virginia Meskenaite; Férechté Encha-Razavi; Joelle Augé; Delphine Bacq; Sylvain Briault; Michel Vekemans; Arnold Munnich; Tania Attié-Bitach; Peter Sonderegger; Laurence Colleaux
Journal:  Science       Date:  2002-11-29       Impact factor: 47.728

Review 2.  The epidemiology of mental retardation: challenges and opportunities in the new millennium.

Authors:  Helen Leonard; Xingyan Wen
Journal:  Ment Retard Dev Disabil Res Rev       Date:  2002

3.  A mutation in a novel ATP-dependent Lon protease gene in a kindred with mild mental retardation.

Authors:  Joseph J Higgins; Joanna Pucilowska; Roni Q Lombardi; John P Rooney
Journal:  Neurology       Date:  2004-11-23       Impact factor: 9.910

4.  Significance levels in complex inheritance.

Authors:  N E Morton
Journal:  Am J Hum Genet       Date:  1998-03       Impact factor: 11.025

5.  Diagnostic genome profiling in mental retardation.

Authors:  Bert B A de Vries; Rolph Pfundt; Martijn Leisink; David A Koolen; Lisenka E L M Vissers; Irene M Janssen; Simon van Reijmersdal; Willy M Nillesen; Erik H L P G Huys; Nicole de Leeuw; Dominique Smeets; Erik A Sistermans; Ton Feuth; Conny M A van Ravenswaaij-Arts; Ad Geurts van Kessel; Eric F P M Schoenmakers; Han G Brunner; Joris A Veltman
Journal:  Am J Hum Genet       Date:  2005-08-30       Impact factor: 11.025

6.  Mental retardation and multiple congenital anomalies of unknown etiology: frequency of occurrence in similarly affected sibs of the proband.

Authors:  J A Bartley; B D Hall
Journal:  Birth Defects Orig Artic Ser       Date:  1978

7.  The CC2D1A, a member of a new gene family with C2 domains, is involved in autosomal recessive non-syndromic mental retardation.

Authors:  L Basel-Vanagaite; R Attia; M Yahav; R J Ferland; L Anteki; C A Walsh; T Olender; R Straussberg; N Magal; E Taub; V Drasinover; A Alkelai; D Bercovich; G Rechavi; A J Simon; M Shohat
Journal:  J Med Genet       Date:  2005-07-20       Impact factor: 6.318

8.  Screening newborns for inborn errors of metabolism by tandem mass spectrometry.

Authors:  Bridget Wilcken; Veronica Wiley; Judith Hammond; Kevin Carpenter
Journal:  N Engl J Med       Date:  2003-06-05       Impact factor: 91.245

9.  The diagnosis and frequency of X-linked conditions in a cohort of moderately retarded males with affected brothers.

Authors:  J Fishburn; G Turner; A Daniel; R Brookwell
Journal:  Am J Med Genet       Date:  1983-04

10.  The GDP-GTP exchange factor collybistin: an essential determinant of neuronal gephyrin clustering.

Authors:  Kirsten Harvey; Ian C Duguid; Melissa J Alldred; Sarah E Beatty; Hamish Ward; Nicholas H Keep; Sue E Lingenfelter; Brian R Pearce; Johan Lundgren; Michael J Owen; Trevor G Smart; Bernhard Lüscher; Mark I Rees; Robert J Harvey
Journal:  J Neurosci       Date:  2004-06-23       Impact factor: 6.167
View more
  39 in total

1.  Deep sequencing reveals 50 novel genes for recessive cognitive disorders.

Authors:  Hossein Najmabadi; Hao Hu; Masoud Garshasbi; Tomasz Zemojtel; Seyedeh Sedigheh Abedini; Wei Chen; Masoumeh Hosseini; Farkhondeh Behjati; Stefan Haas; Payman Jamali; Agnes Zecha; Marzieh Mohseni; Lucia Püttmann; Leyla Nouri Vahid; Corinna Jensen; Lia Abbasi Moheb; Melanie Bienek; Farzaneh Larti; Ines Mueller; Robert Weissmann; Hossein Darvish; Klaus Wrogemann; Valeh Hadavi; Bettina Lipkowitz; Sahar Esmaeeli-Nieh; Dagmar Wieczorek; Roxana Kariminejad; Saghar Ghasemi Firouzabadi; Monika Cohen; Zohreh Fattahi; Imma Rost; Faezeh Mojahedi; Christoph Hertzberg; Atefeh Dehghan; Anna Rajab; Mohammad Javad Soltani Banavandi; Julia Hoffer; Masoumeh Falah; Luciana Musante; Vera Kalscheuer; Reinhard Ullmann; Andreas Walter Kuss; Andreas Tzschach; Kimia Kahrizi; H Hilger Ropers
Journal:  Nature       Date:  2011-09-21       Impact factor: 49.962

2.  Genetic counseling in southern Iran: consanguinity and reason for referral.

Authors:  Mohsen Fathzadeh; Mohammad Ali Babaie Bigi; Masood Bazrgar; Majid Yavarian; Hamid Reza Tabatabaee; Seyed Mohammad Akrami
Journal:  J Genet Couns       Date:  2008-06-13       Impact factor: 2.537

3.  A defect in the ionotropic glutamate receptor 6 gene (GRIK2) is associated with autosomal recessive mental retardation.

Authors:  Mohammad Mahdi Motazacker; Benjamin Rainer Rost; Tim Hucho; Masoud Garshasbi; Kimia Kahrizi; Reinhard Ullmann; Seyedeh Sedigheh Abedini; Sahar Esmaeeli Nieh; Saeid Hosseini Amini; Chandan Goswami; Andreas Tzschach; Lars Riff Jensen; Dietmar Schmitz; Hans Hilger Ropers; Hossein Najmabadi; Andreas Walter Kuss
Journal:  Am J Hum Genet       Date:  2007-08-31       Impact factor: 11.025

4.  The role of CNVs in the etiology of rare autosomal recessive disorders: the example of TRAPPC9-associated intellectual disability.

Authors:  Jérémie Mortreux; Tiffany Busa; Dominique P Germain; Gwenaël Nadeau; Jacques Puechberty; Christine Coubes; Vincent Gatinois; Pierre Cacciagli; Yannis Duffourd; Jean-Marc Pinard; Hélène Tevissen; Laurent Villard; Damien Sanlaville; Nicole Philip; Chantal Missirian
Journal:  Eur J Hum Genet       Date:  2017-11-29       Impact factor: 4.246

5.  Autozygosity mapping of a large consanguineous Pakistani family reveals a novel non-syndromic autosomal recessive mental retardation locus on 11p15-tel.

Authors:  Shoaib ur Rehman; Shahid Mahmood Baig; Hans Eiberg; Sijad ur Rehman; Ilyas Ahmad; Naveed Altaf Malik; Niels Tommerup; Lars Hansen
Journal:  Neurogenetics       Date:  2011-06-04       Impact factor: 2.660

6.  Identification of mutations in TRAPPC9, which encodes the NIK- and IKK-beta-binding protein, in nonsyndromic autosomal-recessive mental retardation.

Authors:  Asif Mir; Liana Kaufman; Abdul Noor; Mahdi M Motazacker; Talal Jamil; Matloob Azam; Kimia Kahrizi; Muhammad Arshad Rafiq; Rosanna Weksberg; Tanveer Nasr; Farooq Naeem; Andreas Tzschach; Andreas W Kuss; Gisele E Ishak; Dan Doherty; H Hilger Ropers; A James Barkovich; Hossein Najmabadi; Muhammad Ayub; John B Vincent
Journal:  Am J Hum Genet       Date:  2009-12       Impact factor: 11.025

7.  A truncating mutation of TRAPPC9 is associated with autosomal-recessive intellectual disability and postnatal microcephaly.

Authors:  Ganeshwaran H Mochida; Muhammad Mahajnah; Anthony D Hill; Lina Basel-Vanagaite; Danielle Gleason; R Sean Hill; Adria Bodell; Moira Crosier; Rachel Straussberg; Christopher A Walsh
Journal:  Am J Hum Genet       Date:  2009-12       Impact factor: 11.025

8.  Combination of linkage mapping and microarray-expression analysis identifies NF-kappaB signaling defect as a cause of autosomal-recessive mental retardation.

Authors:  Orianne Philippe; Marlène Rio; Astrid Carioux; Jean-Marc Plaza; Philippe Guigue; Florence Molinari; Nathalie Boddaert; Christine Bole-Feysot; Patrick Nitschke; Asma Smahi; Arnold Munnich; Laurence Colleaux
Journal:  Am J Hum Genet       Date:  2009-12       Impact factor: 11.025

9.  A defect in the TUSC3 gene is associated with autosomal recessive mental retardation.

Authors:  Masoud Garshasbi; Valeh Hadavi; Haleh Habibi; Kimia Kahrizi; Roxana Kariminejad; Farkhondeh Behjati; Andreas Tzschach; Hossein Najmabadi; Hans Hilger Ropers; Andreas Walter Kuss
Journal:  Am J Hum Genet       Date:  2008-05-01       Impact factor: 11.025

10.  CC2D2A, encoding a coiled-coil and C2 domain protein, causes autosomal-recessive mental retardation with retinitis pigmentosa.

Authors:  Abdul Noor; Christian Windpassinger; Megha Patel; Beata Stachowiak; Anna Mikhailov; Matloob Azam; Muhammad Irfan; Zahid Kamal Siddiqui; Farooq Naeem; Andrew D Paterson; Muhammad Lutfullah; John B Vincent; Muhammad Ayub
Journal:  Am J Hum Genet       Date:  2008-04       Impact factor: 11.025
View more

北京卡尤迪生物科技股份有限公司 © 2022-2023.