High incidence of the cardiac variant of fabry disease revealed by newborn screening in the Taiwan Chinese population

Hsiang Yu Lin, Kah Wai Chong, Ju Hui Hsu, Hsiao Chi Yu, Chun Che Shih, Cheng Hung Huang, Shing Jong Lin, Chen Huan Chen, Chuan Chi Chiang, Huey Jane Ho, Pi Chang Lee, Chuan Hong Kao, Kang Hsiang Cheng, Chuen Hsueh, Dau Ming Niu*


研究成果: Article同行評審

190 引文 斯高帕斯(Scopus)


Background-Fabry disease is a treatable lysosomal storage disorder, which is often misdiagnosed or belatedly diagnosed. Methods and Results-To determine the disease incidence in the Taiwan Chinese population, a Fabry disease newborn screening study was initiated. A total of 110 027 newborns were screened by assaying the α-galactosidase A (α-Gal A) activity using dry blood spots. Low plasma α-Gal A activity and presence of a Fabry mutation was demonstrated in 45 neonates (3 females). Eight different mutations were identified, including 3 known missense mutations (R112H, A143T, and R356W), 4 novel missense mutations (G104V, M296L, G360C, and K391T), and one known intronic mutation (IVS4+919G3→A). The IVS4+919G3→A mutation was most common (82% of patients). A total of 20 maternal grandparents of infants harboring this intronic mutation were evaluated by echocardiography, mutation analysis and α-Gal A activity assay. The intronic mutation was found in 9 grandfathers and 11 grandmothers. Of these grandparents, 3 grandfathers (33%) but none of the grandmothers had hypertrophic cardiomyopathy. Additionally, 16 males who had been diagnosed with idiopathic hypertrophic cardiomyopathy were screened by mutation analysis and α-Gal A activity; 4 (25%) showed deficient plasma α-Gal A activity in combination with the intronic mutation. Conclusion-We found an unexpected high prevalence of the cardiac variant Fabry mutation IVS4+919G3→A among both newborns (=1 in 1600 males) and patients with idiopathic hypertrophic cardiomyopathy in the Taiwan Chinese population. The early identification of undiagnosed patients allows timely therapeutic intervention providing a better clinical outcome.

頁(從 - 到)450-456
期刊Circulation: Cardiovascular Genetics
出版狀態Published - 10月 2009


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