TY - JOUR
T1 - MECP2 duplication phenotype in symptomatic females
T2 - Report of three further cases
AU - Novara, Francesca
AU - Simonati, Alessandro
AU - Sicca, Federico
AU - Battini, Roberta
AU - Fiori, Simona
AU - Contaldo, Annarita
AU - Criscuolo, Lucia
AU - Zuffardi, Orsetta
AU - Ciccone, Roberto
PY - 2014/1/28
Y1 - 2014/1/28
N2 - Background: Xq28 duplications, including MECP2 (methyl CpG-binding protein 2; OMIM 300005), have been identified in approximately 140 male patients presenting with hypotonia, severe developmental delay/intellectual disability, limited or absent speech and ambulation, and recurrent respiratory infections. Female patients with Xq28 duplication have been rarely reported and are usually asymptomatic. Altogether, only fifteen symptomatic females with Xq28 duplications including MECP2 have been reported so far: six of them had interstitial duplications while the remaining had a duplication due to an unbalanced X;autosome translocation. Some of these females present with unspecific mild to moderate intellectual disability whereas a more complex phenotype is reported for females with unbalanced X;autosome translocations. Findings. Here we report on the clinical features of three other adolescent to adult female patients with Xq28 interstitial duplications of variable size, all including MECP2 gene. Conclusions: Mild to moderate cognitive impairment together with learning difficulties and speech delay were evident in each of our patients. Moreover, early inadequate behavioral patterns followed by persistent difficulties in the social and communication domains, as well as the occurrence of mild psychiatric disturbances, are common features of these three patients.
AB - Background: Xq28 duplications, including MECP2 (methyl CpG-binding protein 2; OMIM 300005), have been identified in approximately 140 male patients presenting with hypotonia, severe developmental delay/intellectual disability, limited or absent speech and ambulation, and recurrent respiratory infections. Female patients with Xq28 duplication have been rarely reported and are usually asymptomatic. Altogether, only fifteen symptomatic females with Xq28 duplications including MECP2 have been reported so far: six of them had interstitial duplications while the remaining had a duplication due to an unbalanced X;autosome translocation. Some of these females present with unspecific mild to moderate intellectual disability whereas a more complex phenotype is reported for females with unbalanced X;autosome translocations. Findings. Here we report on the clinical features of three other adolescent to adult female patients with Xq28 interstitial duplications of variable size, all including MECP2 gene. Conclusions: Mild to moderate cognitive impairment together with learning difficulties and speech delay were evident in each of our patients. Moreover, early inadequate behavioral patterns followed by persistent difficulties in the social and communication domains, as well as the occurrence of mild psychiatric disturbances, are common features of these three patients.
KW - MECP2
KW - X chromosome inactivation
KW - Xq28 duplication
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U2 - 10.1186/1755-8166-7-10
DO - 10.1186/1755-8166-7-10
M3 - Article
AN - SCOPUS:84894257805
VL - 7
JO - Molecular Cytogenetics
JF - Molecular Cytogenetics
SN - 1755-8166
IS - 1
M1 - 10
ER -