Fabry Disease in a Family: Four Patients and Five Carriers.
- Author:
Hee Gyung LEE
1
;
Myoung Joon KIM
;
Chul Young CHOI
;
Hungwon TCHAH
Author Information
1. Department of Ophthalmology, University of Ulsan College of Medicine, Asan Medical Center, Seoul, Korea. hwtchah@amc.seoul.kr
- Publication Type:Case Report
- Keywords:
alpha-galactosidase A gene;
Corneal opacity;
Fabry disease
- MeSH:
alpha-Galactosidase;
Corneal Opacity;
Diagnosis;
Fabry Disease*;
Female;
Humans;
Male;
Mothers;
Sequence Deletion;
Siblings
- From:Journal of the Korean Ophthalmological Society
2006;47(9):1496-1501
- CountryRepublic of Korea
- Language:Korean
-
Abstract:
PURPOSE: The purpose of this study is to report the genetic diagnosis of nine cases of Fabry in one family, either as carriers or patients. METHODS: We conducted analysis of the alpha-galactosidase A gene and ophthalmologic examination of family members of a patient diagnosed with Fabry disease. RESULTS: Our patient, his brother, and two male cousins had Fabry disease; his mother, three aunts, and his female cousin were Fabry carriers. Genetic study revealed deletion mutation (1235-1236delCT) at the alpha-galactosidase A gene in all subjects. Ophthalmologic examination detected whirl-like corneal opacity in all subjects, which is a typical characteristic of Fabry disease.
