Homocystinuria in Taiwan: an inordinately high prevalence in an Austronesian aboriginal tribe, Tao

Molecular Genetics and Metabolism
Yung-Hsiu LuDau-Ming Niu

Abstract

The newborn screening of homocystinuria in Taiwan has never been formally reported before. Since 1984, out of 5 million newborns screened, only 3 newborns (Han Taiwanese) suffering from homocystinuria were detected in this newborn screening program. Four mutations (p.R121L [c.362G>T], p.E176K [c.526G>A], p.V320G [c.959T>G] and p.G259D [c.776G>A]) were identified in these 3 patients. Unexpectedly, we recently found 8 patients presenting with homocystinuria in an Austronesian Taiwanese Tao tribe. Out of them, three patients participated in the newborn screening program but were unidentified by the current newborn homocystinuria (using methionine as a marker) screening. All the Tao patients are homozygous for a new p.D47E (c.141T>A) mutation. Among the 428 adult islanders screened for the D47E mutation, approximately 1 in 7.78 is a carrier of the mutation, and an estimated 1 in 240 islanders suffered from homocystinuria. This is the highest known prevalence of homocystinuria worldwide. The result of expression studies of all the mutations identified in Taiwan revealed that, except for p.D47E mutation, all mutations were severely limited in their ability to form functional tetramers. The clinical manifestations of the Tao patients ...Continue Reading

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Citations

Dec 18, 2014·Clinical Nutrition : Official Journal of the European Society of Parenteral and Enteral Nutrition·Yung-Hsiu LuDau-Ming Niu
May 6, 2015·Pediatrics International : Official Journal of the Japan Pediatric Society·Catherine Lynn T SilaoSylvia C Estrada
Nov 6, 2013·FASEB Journal : Official Publication of the Federation of American Societies for Experimental Biology·Sapna GuptaWarren D Kruger
Feb 26, 2019·Scientific Reports·Marta SikoraHieronim Jakubowski
Apr 2, 2020·Molecular Genetics & Genomic Medicine·Giovana R Weber HossHenk J Blom
Dec 16, 2020·Expert Review of Proteomics·Hieronim Jakubowski

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