Analysis of pathogenic variants in a Chinese pedigree affected with hyaline fibromatosis syndrome.
10.3760/cma.j.cn511374-20200625-00472
- VernacularTitle:一个透明纤维瘤病综合征家系的致病变异分析
- Author:
Jianmei YANG
1
;
Xiaohong SHANG
;
Fan LIU
;
Qian WANG
;
Caihong LIU
;
Yan SUN
;
Guimei LI
Author Information
1. Department of Pediatric Endocrinology, Shandong Provincial Hospital Affiliated to Shandong University, Jinan, Shandong 250021, China. sunyan6150@126.com.
- Publication Type:Journal Article
- MeSH:
Asian Continental Ancestry Group/genetics*;
China;
Humans;
Hyalinosis, Systemic/genetics*;
Male;
Mutation;
Pedigree;
Receptors, Peptide/genetics*;
Retrospective Studies
- From:
Chinese Journal of Medical Genetics
2021;38(3):232-237
- CountryChina
- Language:Chinese
-
Abstract:
OBJECTIVE:To explore the clinical characteristics and genetic basis for a pair of twins affected with hyaline fibromatosis syndrome (HFS).
METHODS:Clinical data of the twins were retrospectively analyzed. High-throughput sequencing was carried out to detect potential pathogenic variants. CLUSTALX was employed to analyze cross-species conservation of the mutant amino acids. Impact of the mutations was predicted by using software including PolyPhen-2 and Mutation taster.
RESULTS:The pair of twins have featured growth and intelligence retardation, and were found to carry compound heterozygous variants of the ANTXR2 gene including c.1214G>A and c.1074delT, among which c.1214G>A was unreported previously. Both variants were predicted to be pathogenic. In addition to growth and mental delay, the pair of twins also featured hyperplasia of the gum and soft tissue-like masses of the auricle. The younger brother had rupture of the auricle mass during follow-up.
CONCLUSION:The patients' condition can probably be attributed to the compound heterozygous variants of the ANTXR2 gene. Above finding has facilitated molecular diagnosis of the patients.
