Delineation of large deletions of the MECP2 gene in Rett syndrome patients, including a familial case with a male proband

Comprehensive genetic screening programs have led to the identification of pathogenic methyl-CpG-binding protein 2 (MECP2) mutations...

Authors:
Hardwick SA, Reuter K, Williamson SL, Vasudevan V, Donald J, Slater K, Bennetts B, Bebbington A, Leonard H, Williams SR, Smith RL, Cloosterman D, Christodoulou J

Authors notes:
European Journal of Human Genetics. 2007; 15(12):1218-29

Keywords:
Delineation, large deletions, MECP2 gene, Rett syndrome patients, familial case, male proband, rearrangement, qPCR, MLPA

Abstract:
Comprehensive genetic screening programs have led to the identification of pathogenic methyl-CpG-binding protein 2 (MECP2) mutations in up to 95% of classical Rett syndrome (RTT) patients.