MECP2 mutation spectrum and its clinical characteristics in a Chinese cohort
| Autor: | Qingping Zhang, Xinhua Bao, Xiru Wu, Yongxin Wen, Jiaping Wang, Yan Chen |
|---|---|
| Rok vydání: | 2020 |
| Předmět: |
Male
0301 basic medicine China congenital hereditary and neonatal diseases and abnormalities Methyl-CpG-Binding Protein 2 Developmental Disabilities media_common.quotation_subject Nonsense mutation Nonsense Mutation Missense Rett syndrome 030105 genetics & heredity medicine.disease_cause MECP2 03 medical and health sciences Exon Protein Domains Intellectual Disability Intellectual disability Rett Syndrome Genetics Humans Medicine Missense mutation Genetic Predisposition to Disease Genetics (clinical) media_common Mutation business.industry Infant medicine.disease 030104 developmental biology Codon Nonsense Child Preschool Female business |
| Zdroj: | Clinical Genetics. 98:240-250 |
| ISSN: | 1399-0004 0009-9163 |
| DOI: | 10.1111/cge.13790 |
| Popis: | The dysfunction of methyl-CpG-binding protein 2 (MeCP2) is associated with several neurological disorders, of which Rett syndrome (RTT) is the most prominent. This study focused on a Chinese patient cohort with MECP2 mutations, and analyzed the characteristics of these mutations and their clinical manifestations. In total, 666 patients were identified with 126 different MECP2 mutations, including 22 novel mutations. Over 80% of patients carried an MECP2 mutation on exon 4. Nonsense and missense mutations were the most commonly reported types. Missense mutations were mainly located on methyl-CpG-binding domain (MBD), and nonsense mutations predominantly occurred on transcription repression domain (TRD) and inter domain. The predilection site of large deletion was exon 3 and/or exon 4. Patients with p.R133C, p.R294*, p.R306C, and C-terminal domain (CTD) deletions were less severely affected. Significant differences were found in ambulation ability, hand function, and language among different mutation groups. Three female patients with MECP2 mutations (1 with p.R306P and 2 with p.R309W) only presented with intellectual disability/developmental delay (ID/DD), and no obvious RTT symptoms were reported. Eight male individuals with MECP2 mutations were also identified in this study, including 2 diagnosed with typical RTT, 3 with atypical RTT and 3 with ID/DD. |
| Databáze: | OpenAIRE |
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