Updates on pathogenesis-related genes and diagnosis and treatment of Rett syndrome
10.3760/cma.j.issn.1673-4408.2018.10.006
- VernacularTitle:雷特综合征的致病基因及诊疗研究进展
- Author:
Junwen GE
1
Author Information
1. 200062,上海交通大学附属儿童医院 上海市儿童医院心胸外科
- Keywords:
Rett syndrome;
Female;
Mecp2;
Diagnosis;
Treatment
- From:
International Journal of Pediatrics
2018;45(10):764-767
- CountryChina
- Language:Chinese
-
Abstract:
Rett syndrome ( RTT) is a devastating neurological disorder that is caused largely by muta-tions in the X-linked gene MECP2,other two genes associated with RTT are CDKL5 and FOXG1. RTT is one of the most common causes of mental retardation in girls,male cases are rare. Classical features of typical RTT in-clude losing acquired spoken language and hand skills,hand stereotypies,epilepsy and respiratory disorders. The diagnosis of RTT mainly depends on the clinical characteristics. Atpresent, it still lacks atargeted treatment. In this review,we summarize both the gene research,diagnosis and treatmentprogresses of RTT so as to improve the understanding of RTT.
