Mutational analysis of MECP2 gene in Rett syndrome.
- Author:
Hong PAN
1
;
Yanping WANG
;
Hongdi MENG
;
Xinhua BAO
;
Yan ZHANG
;
Yan SHEN
;
Xiru WU
Author Information
- Publication Type:Journal Article
- MeSH: Base Sequence; Child; Child, Preschool; Chromosomal Proteins, Non-Histone; DNA; chemistry; genetics; DNA Mutational Analysis; DNA-Binding Proteins; genetics; Female; Humans; Infant; Methyl-CpG-Binding Protein 2; Mutagenesis, Insertional; Mutation; Mutation, Missense; Polymorphism, Single-Stranded Conformational; Repressor Proteins; Rett Syndrome; genetics; Sequence Deletion
- From: Chinese Journal of Medical Genetics 2002;19(4):276-280
- CountryChina
- Language:Chinese
-
Abstract:
OBJECTIVETo investigate mutations of MECP2 gene in classical sporadic Rett syndrome (RTT) patients in China.
METHODSPolymerase chain reaction, single strand conformation polymorphism, cloning and direct sequencing were employed to analyse the three exons of MECP2 gene in 26 RTT patients and their parents, and in 2 sisters of 2 of the RTT patients.
RESULTSNine different mutations in exon 3 were identified in 14 of the 26 patients with RTT, including 3 missense mutations, 3 nonsense mutations, and 3 frame-shift mutations (2 deletion mutations and 1 insert mutation); 2 of these were novel. A missense variant was also identified, which was carried by unaffected father and affected daughter.
CONCLUSIONMutations in MECP2 gene were found over 50% of patients with RTT in China.
