Clinical characteristics and genetic analysis in one case of incontinentia pigmenti
10.3969/j.issn.1000-3606.2013.12.018
- VernacularTitle:色素失禁症1例临床特征及基因分析
- Author:
Shengju HAO
;
Xue CHEN
;
Yousheng YAN
;
Lan WANG
- Publication Type:Journal Article
- Keywords:
incontinentia pigmenti;
gene deletion;
polymerase chain reaction
- From:
Journal of Clinical Pediatrics
2013;(12):1173-1175
- CountryChina
- Language:Chinese
-
Abstract:
Objective To explore the clinical manifestations and the deletion mutation in NEMO gene in incontinentia pigmenti. Methods The clinical manifestations of one neonatal infant were analyzed. By long PCR ampliifcation, the deletion mutations in NEMO gene and pseudogene ΔNEMO were detected. Results The clinical manifestations were typical skin lesions. Histopathological examination showed focal edema sponge and gathered or scattered eosinophilic granulocytes. The deletion of exons 4-10 in both NEMO andΔNEMO genes were detected in the patient. Conclusions Incontinentia pigmenti is a rare X chromosome linked dominant genetic disease. It has typical clinical manifestations and pathological changes, and deletion mutation in NEMO gene.
