title: Familial cases and male cases with MECP2 mutations.
abstract: This is the first report of Chinese familial cases with Rett syndrome (RTT) or X-linked mental retardation (XLMR). RTT is a neurodevelopmental disorder that almost exclusively affects females. Most RTT cases are sporadic. We have studied eight cases with MECP2 mutations in six Chinese families, including three females and five males with RTT or XLMR. All shared identical MECP2 mutations with their mothers. The three females fulfilled the diagnostic criteria for RTT, while the five males were XLMR. A random X-chromosome inactive (XCI) pattern was seen in all the three female patients and two mothers while a skewed XCI in the rest four mothers. The clinical manifestations and pathogenic gene spectrum between male and female patients were different. The different MECP2 mutations and different XCI pattern may be the determinants of the phenotypic heterogeneity between the family members.
authors.affiliation: Department of Pediatrics, Peking University First Hospital, Beijing, China.
authors.forename: Qingping
authors.identifier: http://orcid.org/0000-0003-3202-4368
authors.initials: Q
authors.lastname: Zhang
authors.affiliation: Department of Pediatrics, Peking University First Hospital, Beijing, China.
authors.forename: Ying
authors.initials: Y
authors.lastname: Zhao
authors.affiliation: Department of Pediatrics, Peking University First Hospital, Beijing, China.
authors.forename: Xinhua
authors.initials: X
authors.lastname: Bao
authors.affiliation: Departments of Neurology and Pharmacology, Lewis Katz School of Medicine at Temple University, Philadelphia, Pennsylvania.
authors.forename: Jinjun
authors.initials: J
authors.lastname: Luo
authors.affiliation: Department of Pediatrics, Peking University First Hospital, Beijing, China.
authors.forename: Xiaoying
authors.initials: X
authors.lastname: Zhang
authors.affiliation: State Key Laboratory of Protein and Plant Gene Research, School of Life Sciences, Peking University, Center for Bioinformatics, Beijing, China.
authors.forename: Jiarui
authors.initials: J
authors.lastname: Li
authors.affiliation: State Key Laboratory of Protein and Plant Gene Research, School of Life Sciences, Peking University, Center for Bioinformatics, Beijing, China.
authors.forename: Liping
authors.initials: L
authors.lastname: Wei
authors.affiliation: Department of Pediatrics, Peking University First Hospital, Beijing, China.
authors.forename: Xiru
authors.initials: X
authors.lastname: Wu
mesh_terms: D000328:Adult; D044466:Asian People / Q000235:genetics; D002648:Child; D002675:Child, Preschool; D041321:Chromosomes, Human, X / Q000235:genetics*; D005260:Female; D020022:Genetic Predisposition to Disease; D006801:Humans; D007223:Infant; D008297:Male; D051783:Methyl-CpG-Binding Protein 2 / Q000235:genetics*; D009154:Mutation; D010375:Pedigree; D011379:Prognosis; D015518:Rett Syndrome / Q000235:genetics*; D049951:X Chromosome Inactivation
chemical_list: C497392:MECP2 protein, human; D051783:Methyl-CpG-Binding Protein 2
keywords: Rett syndrome; X-linked mental retardation; clinical manifestations; pathogenic gene spectrum; phenotypic heterogeneity