BACKGROUND: Duplications involving the methyl-CpG-binding protein 2 gene (MECP2) locus at Xq28 have been frequently identified in male patients who exhibit a phenotype unique from that of Rett syndrome, which is mainly characterized by severe mental retardation, recurrent infections, and epilepsy. This combination of features is recognized as MECP2 duplication syndrome. METHODS: Genomic copy number was investigated for patients with unexplained mental retardation, and phenotypic features of the patients having interstitial duplications including MECP2 were analyzed. RESULTS: Three male and one female patients with MECP2 duplication were identified. The phenotypic features of all the four patients were compatible with MECP2 duplication syndrome. The X-chromosome inactivation (XCI) pattern was analyzed in the female patient, identifying a skewed XCI that activated the X-chromosome containing the MECP2 duplication. Her mother possessed the same MECP2 duplication and a random XCI pattern but exhibited no phenotypic features, indicating a nonsymptomatic carrier. The brain magnetic resonance imaging revealed periventricular cystic lesions in all four patients, including the female patient. CONCLUSION: This study suggested clinical implications of the MECP2 duplication syndrome not only in the male but also in female patients with unexplained mental retardation. Crown
BACKGROUND: Duplications involving the methyl-CpG-binding protein 2 gene (MECP2) locus at Xq28 have been frequently identified in male patients who exhibit a phenotype unique from that of Rett syndrome, which is mainly characterized by severe mental retardation, recurrent infections, and epilepsy. This combination of features is recognized as MECP2 duplication syndrome. METHODS: Genomic copy number was investigated for patients with unexplained mental retardation, and phenotypic features of the patients having interstitial duplications including MECP2 were analyzed. RESULTS: Three male and one female patients with MECP2 duplication were identified. The phenotypic features of all the four patients were compatible with MECP2 duplication syndrome. The X-chromosome inactivation (XCI) pattern was analyzed in the female patient, identifying a skewed XCI that activated the X-chromosome containing the MECP2 duplication. Her mother possessed the same MECP2 duplication and a random XCI pattern but exhibited no phenotypic features, indicating a nonsymptomatic carrier. The brain magnetic resonance imaging revealed periventricular cystic lesions in all four patients, including the female patient. CONCLUSION: This study suggested clinical implications of the MECP2 duplication syndrome not only in the male but also in female patients with unexplained mental retardation. Crown
Authors: Nathalie Fieremans; Marijke Bauters; Stefanie Belet; Jelle Verbeeck; Anna C Jansen; Sara Seneca; Filip Roelens; Elfride De Baere; Peter Marynen; Guy Froyen Journal: Hum Genet Date: 2014-07-19 Impact factor: 4.132
Authors: David Isum Ward; Bethany A Buckley; Eyby Leon; Jullianne Diaz; Margaret Faust Galegos; Sean Hofherr; Amy Feldman Lewanda Journal: Am J Med Genet A Date: 2018-01-17 Impact factor: 2.802
Authors: Dana Marafi; Bernhard Suter; Rebecca Schultz; Daniel Glaze; Valory N Pavlik; Alica M Goldman Journal: Neurology Date: 2018-12-14 Impact factor: 9.910