Analysis on six cases of Hutchinson-Gilford progeria syndrome
10.3760/cma.j.issn.1000-6699.2020.01.003
- VernacularTitle: 儿童Hutchinson-Gilford早老症六例分析
- Author:
Jia YU
1
;
Wenli YANG
2
;
Jie YAN
2
;
Min LIU
1
;
Cheng ZHU
1
;
Guichen NI
1
;
Yanmei SANG
1
Author Information
1. Department of Endocrinology, Genetics and Metabolism Center, Beijing Children′s Hospital, Capital Medical University, National Center for Children′s Health, Beijing 100045, China
2. Department of Clinical Nutrition, Beijing Children′s Hospital, Capital Medical University, National Center for Children′s Health, Beijing 100045, China
- Publication Type:Journal Article
- Keywords:
Hutchinson-Gilford Progeria syndrome;
LMNA gene;
Progeria
- From:
Chinese Journal of Endocrinology and Metabolism
2020;36(1):25-30
- CountryChina
- Language:Chinese
-
Abstract:
Objective:To summarize the clinical characteristics of 6 children with Hutchinson-Gilford progeria syndrome, and to analyze the pathogenic genes carried by some patients.
Methods:The clinical data of 6 patients were summarized. The pathogenic genes of 4 families were analyzed. Genomic DNA was extracted from 3ml of the subject′s blood with EDTA anticoagulation. The first-generation sequencing technology was used to analyze the sequence of Lamin A/C(LMNA) gene and to identify the pathogenic mutation sites by comparing with normal sequencing results.
Results:All the children had typical clinical manifestations of the disease which has been previously reported in the literature, such as severe growth retardation, special skin manifestations, and distinctive craniofacial manifestations.Gene sequencing results revealed that 2 patients carried classical heterozygous mutation of LMNA c. 1824C>T(p.G608G). The other two patients carried atypical mutations of LMNA IVS8-4 C>A and c. 1968+ 2T>C, among which the mutation of IVS8-4 C>A has not been reported.
Conclusions:In Chinese children, both classical and non-classical mutations in LMNA gene lead to the occurrence of premature aging. It is easy to make a diagnosis based on clinical manifestations. Finding of the pathogenic gene may further confirm the diagnosis.
