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

[11] A new member of the IL-1 receptor family highly expressed in hippocampus and involved in X-linked mental retardation [J].

Carrié, A ;

Jun, L ;

Bienvenu, T ;

Vinet, MC ;

McDonell, N ;

Couvert, P ;

Zemni, R ;

Cardona, A ;

Van Buggenhout, G ;

Frints, S ;

Hamel, B ;

Moraine, C ;

Ropers, HH ;

Strom, T ;

Howell, GR ;

Whittaker, A ;

Ross, MT ;

Kahn, A ;

Fryns, JP ;

Beldjord, C ;

Marynen, P ;

Chelly, J .

NATURE GENETICS, 1999, 23 (01) :25-31

[12] Mutation screening of brain-expressed X-chromosomal miRNA genes in 464 patients with nonsyndromic X-linked mental retardation [J].

Chen, Wei ;

Jensen, Lars R. ;

Gecz, Jozef ;

Fryns, Jean-Pierre ;

Moraine, Claude ;

de Brouwer, Arjan ;

Chelly, Jamel ;

Moser, Bettina ;

Ropers, H. Hilger ;

Kuss, Andreas W. .

EUROPEAN JOURNAL OF HUMAN GENETICS, 2007, 15 (03) :375-378

[13] XLMR genes: update 2007 [J].

Chiurazzi, Pietro ;

Schwartz, Charles E. ;

Gecz, Jozef ;

Neri, Giovanni .

EUROPEAN JOURNAL OF HUMAN GENETICS, 2008, 16 (04) :422-434

[14] Mutation screening in Borjeson-Forssman-Lehmann syndrome:: identification of a novel de novo PHF6 mutation in a female patient [J].

Crawford, J ;

Lower, KM ;

Hennekam, RCM ;

Van Esch, H ;

Mégarbané, A ;

Lynch, SA ;

Turner, G ;

Gécz, J .

JOURNAL OF MEDICAL GENETICS, 2006, 43 (03) :238-243

[15] Mutations in GDI1 are responsible for X-linked non-specific mental retardation [J].

D'Adamo, P ;

Menegon, A ;

Lo Nigro, C ;

Grasso, M ;

Gulisano, M ;

Tamanini, F ;

Bienvenu, T ;

Gedeon, AK ;

Oostra, B ;

Wu, SK ;

Tandon, A ;

Valtorta, F ;

Balch, WE ;

Chelly, J ;

Toniolo, D .

NATURE GENETICS, 1998, 19 (02) :134-139

[16] Mutation Frequencies of X-linked Mental Retardation Genes in Families from the EuroMRX Consortium [J].

de Brouwer, Arjan P. M. ;

Yntema, Helger G. ;

Kleefstra, Tjitske ;

Lugtenberg, Dorien ;

Oudakker, Astrid R. ;

de Vries, Bert B. A. ;

van Bokhoven, Hans ;

Van Esch, Hilde ;

Frints, Suzanne G. M. ;

Froyen, Guy ;

Fryns, Jean-Pierre ;

Raynaud, Martine ;

Moizard, Marie-Pierre ;

Ronce, Nathalie ;

Bensalem, Anissa ;

Moraine, Claude ;

Poirier, Karine ;

Castelnau, Laetitia ;

Saillour, Yoann ;

Bienvenu, Thierry ;

Beldjord, Cherif ;

des Portes, Vincent ;

Chelly, Jamel ;

Turner, Gillian ;

Fullston, Tod ;

Gecz, Jozef ;

Kuss, Andreas W. ;

Tzschach, Andreas ;

Jensen, Lars Riff ;

Lenzner, Steffen ;

Kalscheuer, Vera M. ;

Ropers, Hans-Hilger ;

Hamel, Ben C. J. .

HUMAN MUTATION, 2007, 28 (02) :207-208

[17] Sporadic Infantile Epileptic Encephalopathy Caused by Mutations in PCDH19 Resembles Dravet Syndrome but Mainly Affects Females [J].

Depienne, Christel ;

Bouteiller, Delphine ;

Keren, Boris ;

Cheuret, Emmanuel ;

Poirier, Karine ;

Trouillard, Oriane ;

Benyahia, Baya ;

Quelin, Chloe ;

Carpentier, Wassila ;

Julia, Sophie ;

Afenjar, Alexandra ;

Gautier, Agnes ;

Rivier, Francois ;

Meyer, Sophie ;

Berquin, Patrick ;

Helias, Marie ;

Py, Isabelle ;

Rivera, Serge ;

Bahi-Buisson, Nadia ;

Gourfinkel-An, Isabelle ;

Cazeneuve, Cecile ;

Ruberg, Merle ;

Brice, Alexis ;

Nabbout, Rima ;

LeGuern, Eric .

PLOS GENETICS, 2009, 5 (02)

[18] X-linked protocadherin 19 mutations cause female-limited epilepsy and cognitive impairment [J].

Dibbens, Leanne M. ;

Tarpey, Patrick S. ;

Hynes, Kim ;

Bayly, Marta A. ;

Scheffer, Ingrid E. ;

Smith, Raffaella ;

Bomar, Jamee ;

Sutton, Edwina ;

Vandeleur, Lucianne ;

Shoubridge, Cheryl ;

Edkins, Sarah ;

Turner, Samantha J. ;

Stevens, Claire ;

O'Meara, Sarah ;

Tofts, Calli ;

Barthorpe, Syd ;

Buck, Gemma ;

Cole, Jennifer ;

Halliday, Kelly ;

Jones, David ;

Lee, Rebecca ;

Madison, Mark ;

Mironenko, Tatiana ;

Varian, Jennifer ;

West, Sofie ;

Widaa, Sara ;

Wray, Paul ;

Teague, John ;

Dicks, Ed ;

Butler, Adam ;

Menzies, Andrew ;

Jenkinson, Andrew ;

Shepherd, Rebecca ;

Gusella, James F. ;

Afawi, Zaid ;

Mazarib, Aziz ;

Neufeld, Miriam Y. ;

Kivity, Sara ;

Lev, Dorit ;

Lerman-Sagie, Tally ;

Korczyn, Amos D. ;

Derry, Christopher P. ;

Sutherland, Grant R. ;

Friend, Kathryn ;

Shaw, Marie ;

Corbett, Mark ;

Kim, Hyung-Goo ;

Geschwind, Daniel H. ;

Thomas, Paul ;

Haan, Eric .

NATURE GENETICS, 2008, 40 (06) :776-781

[19] Mutations in the BRWD3 gene cause X-linked mental retardation associated with macrocephaly [J].

Field, Michael ;

Tarpey, Patrick S. ;

Smith, Raffaella ;

Edkins, Sarah ;

O'Meara, Sarah ;

Stevens, Claire ;

Tofts, Calli ;

Teague, Jon ;

Butler, Adam ;

Dicks, Ed ;

Barthorpe, Syd ;

Buck, Gemma ;

Cole, Jennifer ;

Gray, Kristian ;

Halliday, Kelly ;

Hills, Katy ;

Jenkinson, Andrew ;

Jones, David ;

Menzies, Andrew ;

Mironenko, Tatiana ;

Perry, Janet ;

Raine, Keiran ;

Richardson, David ;

Shepherd, Rebecca ;

Small, Alexandra ;

Varian, Jennifer ;

West, Sofie ;

Widaa, Sara ;

Mallya, Uma ;

Wooster, Richard ;

Moon, Jenny ;

Luo, Ying ;

Hughes, Helen ;

Shaw, Marie ;

Friend, Kathryn L. ;

Corbett, Mark ;

Turner, Gillian ;

Partington, Michael ;

Mulley, John ;

Bobrow, Martin ;

Schwartz, Charles ;

Stevenson, Roger ;

Gecz, Jozef ;

Stratton, Michael R. ;

Futreal, P. Andrew ;

Raymond, F. Lucy .

AMERICAN JOURNAL OF HUMAN GENETICS, 2007, 81 (02) :367-374

[20] Mutations in the FTSJ1 gene coding for a novel S-adenosylmethionine- binding protein cause nonsyndromic X-linked mental retardation [J].

Freude, K ;

Hoffmann, K ;

Jensen, LR ;

Delatycki, MB ;

des Portes, V ;

Moser, B ;

Hamel, B ;

van Bokhoven, H ;

Moraine, C ;

Fryns, JP ;

Chelly, J ;

Gécz, J ;

Lenzner, S ;

Kalscheuer, VM ;

Ropers, HH .

AMERICAN JOURNAL OF HUMAN GENETICS, 2004, 75 (02) :305-309

← 1 2 3 4 5 6 7 8 9 10 →