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Familial cases and male cases with MECP2 mutations
Author(s) -
Zhang Qingping,
Zhao Ying,
Bao Xinhua,
Luo Jinjun,
Zhang Xiaoying,
Li Jiarui,
Wei Liping,
Wu Xiru
Publication year - 2017
Publication title -
american journal of medical genetics part b: neuropsychiatric genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.393
H-Index - 126
eISSN - 1552-485X
pISSN - 1552-4841
DOI - 10.1002/ajmg.b.32534
Subject(s) - rett syndrome , mecp2 , x inactivation , genetics , x chromosome , neurodevelopmental disorder , mutation , phenotype , xq28 , biology , gene
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.