Clinical manifestation and genetic analysis of a family with Fabry disease
10.3760/cma.j.cn112148-20250314-00194
- VernacularTitle:一个法布雷病家系的临床表型及基因型分析
- Author:
Yueli WANG
1
;
Li SONG
;
Baorong NIU
;
Yanlong REN
;
Yihua HE
Author Information
1. 首都医科大学附属北京安贞医院心脏超声医学中心 心血管疾病精准医学北京实验室，北京 100029
- Publication Type:Journal Article
- Keywords:
Fabry disease;
Heart;
Genetic testing;
Echocardiography
- From:
Chinese Journal of Cardiology
2025;53(5):522-528
- CountryChina
- Language:Chinese
-
Abstract:
Objective:To analyse the pathogenicity of a family with Fabry disease and to characterise its clinical phenotype and genetic variants.Methods:A proband with Fabry disease admitted to Beijing Anzhen Hospital, Capital Medical University in December 2021 was enrolled. Clinical data, including medical history, biochemical parameters, echocardiography, and electrocardiogram, were collected from the proband and family members. The proband and his daughter underwent α-galactosidase A (α-Gal A) enzyme activity assay and Sanger sequencing of the GLA gene. Candidate variants were analyzed and classified according to the American College of Medical Genetics and Genomics guidelines.Results:The male proband (69 years old) presented with chronic renal insufficiency, electrocardiogram findings of ST-T changes, bundle branch block, and left ventricular high voltage, and echocardiographic evidence of left ventricular hypertrophy. His α-Gal A activity was markedly reduced, and genetic testing identified a hemizygous GLA c.511G>C (p.Gly171Arg) variant on the X chromosome. The proband′s asymptomatic daughter also exhibited significantly decreased α-Gal A activity and carried the heterozygous GLA c.511G>C (p.Gly171Arg) variant. Based on the American College of Medical Genetics and Genomics guidelines, this variant was classified as “likely pathogenic” and considered the underlying cause of Fabry disease in this family.Conclusion:The proband manifested chronic renal insufficiency and cardiac hypertrophy, with the GLA c.511G>C (p.Gly171Arg) variant identified as the likely-pathogenic cause of Fabry disease in this family.
