Mutation detection in a case of Costello syndrome complicated by cutis laxa
10.3760/cma.j.issn.0412-4030.2017.11.016
- VernacularTitle:Costello综合征合并皮肤松弛症一例基因突变检测
- Author:
Fang YANG
1
;
Jintao HU
;
Lixiong ZHENG
;
Yongfeng YAO
;
Biao SONG
;
Zhaojun SUN
;
Cuiping SHI
;
Sining FANG
Author Information
1. 暨南大学第二临床医学院深圳市人民医院皮肤病与性病科
- Keywords:
Chromosome disorders;
Cutis laxa;
Skin manifestations;
DNA mutational analysis;
Costello syndrome;
Gene,HRAS
- From:
Chinese Journal of Dermatology
2017;50(11):841-843
- CountryChina
- Language:Chinese
-
Abstract:
Objective To report a case of Costello syndrome complicated by curis laxa,and to make a molecular genetic diagnosis.Methods Clinical data were collected from a case of Costello syndrome complicated by cutis laxa.Skin tissues were resected from the patient,and peripheral blood samples were obtained from the patient's parents and 150 unrelated healthy controls.Genomic DNA was extracted from these samples,and all the exons and their flanking sequences of the HRAS gene were analyzed by DNA sequencing.Results The 13-month-old female patient presented with growth retardation,severe malnutrition,coarse facial appearance,severely loose skin over the limbs,and decrease or disappearance of subcutaneous fat.A heterozygous mutation c.34G ＞ T (p.Gly12Cys) was detected in exon 2 of the HRAS gene in the patient,but not in her parents or 150 unrelated healthy controls.Conclusion The c.34G ＞ T (p.Gly12Cys) mutation in exon 2 of the HRAS gene may be responsible for Costello syndrome in the patient.
