한 가족에서 발생한 파브리병 환자 및 파브리병 보인자 9예

Fabry Disease in a Family: Four Patients and Five Carriers

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 α-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 α-galactosidase A gene in all subjects. Ophthalmologic examination detected whirl-like corneal opacity in all subjects, which is a typical characteristic of Fabry disease.