The genetic landscape of intellectual disability arising from chromosome X

被引：153

作者：

Gecz, Jozef ^{[1
,2
]}

Shoubridge, Cheryl ^{[1
,2
]}

Corbett, Mark ^{[1
]}

机构：

[1] Womens & Childrens Hosp, SA Pathol, Adelaide, SA 5006, Australia

[2] Univ Adelaide, Dept Paediat, Adelaide, SA 5000, Australia

来源：

TRENDS IN GENETICS | 2009年 / 25卷 / 07期

基金：

英国医学研究理事会;

关键词：

LINKED MENTAL-RETARDATION; GENOMIC HYBRIDIZATION ANALYSIS; DUPLICATED CRITICAL REGION; INTRAGENIC DELETION; MECP2; DUPLICATIONS; MISSENSE MUTATION; BINDING-PROTEIN; RETT-SYNDROME; VCX-A; IDENTIFICATION;

D O I：

10.1016/j.tig.2009.05.002

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

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, similar to 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.

引用

页码：308 / 316

页数：9

共 102 条

[1] PAK3 mutation in nonsyndromic X-linked mental retardation [J].

Allen, KM ;

Gleeson, JG ;

Bagrodia, S ;

Partington, MW ;

MacMillan, JC ;

Cerione, RA ;

Mulley, JC ;

Walsh, CA .

NATURE GENETICS, 1998, 20 (01) :25-30

[2] Rett syndrome is caused by mutations in X-linked MECP2, encoding methyl-CpG-binding protein 2 [J].

Amir, RE ;

Van den Veyver, IB ;

Wan, M ;

Tran, CQ ;

Francke, U ;

Zoghbi, HY .

NATURE GENETICS, 1999, 23 (02) :185-188

[3] THE RISE AND FALL OF POSITIONAL CLONING [J].

BALLABIO, A .

NATURE GENETICS, 1993, 3 (04) :277-279

[4] Introduction - Genetics of mental retardation [J].

Battaglia, A .

AMERICAN JOURNAL OF MEDICAL GENETICS PART C-SEMINARS IN MEDICAL GENETICS, 2003, 117C (01) :1-2

[5] Nonrecurrent MECP2 duplications mediated by genomic architecture-driven DNA breaks and break-induced replication repair [J].

Bauters, Marijke ;

Van Esch, Hilde ;

Friez, Michael J. ;

Boespflug-Tanguy, Odile ;

Zenker, Martin ;

Vianna-Morgante, Angela M. ;

Rosenberg, Carla ;

Ignatius, Jaakko ;

Raynaud, Martine ;

Hollanders, Karen ;

Govaerts, Karen ;

Vandenreijt, Kris ;

Niel, Florence ;

Blanc, Pierre ;

Stevenson, Roger E. ;

Fryns, Jean-Pierre ;

Marynen, Peter ;

Schwartz, Charles E. ;

Froyen, Guy .

GENOME RESEARCH, 2008, 18 (06) :847-858

[6] FRAXE-associated mental retardation protein (FMR2) is an RNA-binding protein with high affinity for G-quartet RNA forming structure [J].

Bensaid, Mounia ;

Melko, Mireille ;

Bechara, Elias G. ;

Davidovic, Laetitia ;

Berretta, Antonio ;

Catania, Maria Vincenza ;

Gecz, Jozef ;

Lalli, Enzo ;

Bardoni, Barbara .

NUCLEIC ACIDS RESEARCH, 2009, 37 (04) :1269-1279

[7] INTRAGENIC DELETION OF THE KALIG-1 GENE IN KALLMANNS SYNDROME [J].

BICK, D ;

FRANCO, B ;

SHERINS, RJ ;

HEYE, B ;

PIKE, L ;

CRAWFORD, J ;

MADDALENA, A ;

INCERTI, B ;

PRAGLIOLA, A ;

MEITINGER, T ;

BALLABIO, A .

NEW ENGLAND JOURNAL OF MEDICINE, 1992, 326 (26) :1752-1755

[8] ARX, a novel Prd-class-homeobox gene highly expressed in the telencephalon, is mutated in X-linked mental retardation [J].

Bienvenu, T ;

Poirier, K ;

Friocourt, G ;

Bahi, N ;

Beaumont, D ;

Fauchereau, F ;

Ben Jeema, L ;

Zemni, R ;

Vinet, MC ;

Francis, F ;

Couvert, P ;

Gomot, M ;

Moraine, C ;

van Bokhoven, H ;

Kalscheuer, V ;

Frints, S ;

Gecz, J ;

Ohzaki, K ;

Chaabouni, H ;

Fryns, JP ;

Desportes, V ;

Beldjord, C ;

Chelly, J .

HUMAN MOLECULAR GENETICS, 2002, 11 (08) :981-991

[9]

Billuart P, 1998, PATHOL BIOL, V46, P678

[10] Identification and analysis of functional elements in 1% of the human genome by the ENCODE pilot project [J].

Birney, Ewan ;

Stamatoyannopoulos, John A. ;

Dutta, Anindya ;

Guigo, Roderic ;

Gingeras, Thomas R. ;

Margulies, Elliott H. ;

Weng, Zhiping ;

Snyder, Michael ;

Dermitzakis, Emmanouil T. ;

Stamatoyannopoulos, John A. ;

Thurman, Robert E. ;

Kuehn, Michael S. ;

Taylor, Christopher M. ;

Neph, Shane ;

Koch, Christoph M. ;

Asthana, Saurabh ;

Malhotra, Ankit ;

Adzhubei, Ivan ;

Greenbaum, Jason A. ;

Andrews, Robert M. ;

Flicek, Paul ;

Boyle, Patrick J. ;

Cao, Hua ;

Carter, Nigel P. ;

Clelland, Gayle K. ;

Davis, Sean ;

Day, Nathan ;

Dhami, Pawandeep ;

Dillon, Shane C. ;

Dorschner, Michael O. ;

Fiegler, Heike ;

Giresi, Paul G. ;

Goldy, Jeff ;

Hawrylycz, Michael ;

Haydock, Andrew ;

Humbert, Richard ;

James, Keith D. ;

Johnson, Brett E. ;

Johnson, Ericka M. ;

Frum, Tristan T. ;

Rosenzweig, Elizabeth R. ;

Karnani, Neerja ;

Lee, Kirsten ;

Lefebvre, Gregory C. ;

Navas, Patrick A. ;

Neri, Fidencio ;

Parker, Stephen C. J. ;

Sabo, Peter J. ;

Sandstrom, Richard ;

Shafer, Anthony .

NATURE, 2007, 447 (7146) :799-816

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