Structural variation in Xq28: MECP2 duplications in 1% of patients with unexplained XLMR and in 2% of male patients with severe encephalopathy-Reference-Cited by-同舟云学术

Structural variation in Xq28: MECP2 duplications in 1% of patients with unexplained XLMR and in 2% of male patients with severe encephalopathy

Published:2008-11-05 Issue:4 Volume:17 Page:444-453
ISSN:1018-4813
Container-title:European Journal of Human Genetics
language:en
Short-container-title:Eur J Hum Genet

Author:

Lugtenberg Dorien,Kleefstra Tjitske,Oudakker Astrid R,Nillesen Willy M,Yntema Helger G,Tzschach Andreas,Raynaud Martine,Rating Dietz,Journel Hubert,Chelly Jamel,Goizet Cyril,Lacombe Didier,Pedespan Jean-Michel,Echenne Bernard,Tariverdian Gholamali,O'Rourke Declan,King Mary D,Green Andrew,van Kogelenberg Margriet,Van Esch Hilde,Gecz Jozef,Hamel Ben C J,van Bokhoven Hans,de Brouwer Arjan P M

Publisher

Springer Science and Business Media LLC

Subject

Genetics (clinical),Genetics

Link

http://www.nature.com/articles/ejhg2008208.pdf

Reference23 articles.

1. Kleefstra T, Brunner HG, Amiel J et al: Loss-of-function mutations in euchromatin histone methyl transferase 1 (EHMT1) cause the 9q34 subtelomeric deletion syndrome. Am J Hum Genet 2006; 79: 370–377.

2. Van Esch H, Bauters M, Ignatius J et al: Duplication of the MECP2 region is a frequent cause of severe mental retardation and progressive neurological symptoms in males. Am J Hum Genet 2005; 77: 442–453.

3. Ariani F, Mari F, Pescucci C et al: Real-time quantitative PCR as a routine method for screening large rearrangements in Rett syndrome: Report of one case of MECP2 deletion and one case of MECP2 duplication. Hum Mutat 2004; 24: 172–177.

4. del Gaudio D, Fang P, Scaglia F et al: Increased MECP2 gene copy number as the result of genomic duplication in neurodevelopmentally delayed males. Genet Med 2006; 8: 784–792.

5. Friez MJ, Jones JR, Clarkson K et al: Recurrent infections, hypotonia, and mental retardation caused by duplication of MECP2 and adjacent region in Xq28. Pediatrics 2006; 118: e1687–e1695.

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