High incidence and allelic homogeneity of Wilson disease in 2 isolated populations: a prerequisite for efficient disease prevention programs

Journal of Pediatric Gastroenterology and Nutrition
Antonietta ZappuGeorgios Loudianos

Abstract

Herein we report the results of mutation-based screening for Wilson disease (WD) in 2 isolated populations of Sardinia and the Greek island of Kalymnos. Mutation analysis was performed in 110 and 9 WD families originating respectively from Sardinia and Kalymons using single-strand conformation polymorphism and sequencing methods. In Sardinia, a limited screening was performed for -441/-427del in 5290 newborns, whereas in Kalymnos 397 newborns underwent mutation screening for H1069Q and R969Q using appropriate methods. In Sardinia, mutation analysis showed the presence of 6 mutations accounting for 85% of chromosomes, 1 of which (-441/-427del) is present in 61.7% of alleles. The screening for -441/-427del in 5290 newborns revealed the presence of 122 heterozygotes, which is equal to an allelic frequency of 1.15%. Assuming the same distribution of WD mutations in the general Sardinian population, we also inferred an allelic frequency of 0.77% for mutations other than -441/-427del, which accounts for an overall frequency of any WD mutation of 1.92%. Assuming Hardy-Weinberg equilibrium, these data could be translated into a WD incidence of 1 in 2707 live births. In Kalymnos, mutation analysis in 9 WD families revealed the presence ...Continue Reading

References

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Citations

Mar 15, 2013·European Journal of Human Genetics : EJHG·Alessandro GialluisiGiovanni Romeo
Dec 17, 2014·Lancet Neurology·Oliver BandmannStephen G Kaler
Jul 19, 2013·European Journal of Human Genetics : EJHG·Alessandro GialluisiGiovanni Romeo
May 28, 2013·Clinics and Research in Hepatology and Gastroenterology·Eve A Roberts
May 9, 2015·Mass Spectrometry Reviews·Daniela OmbroneGiancarlo la Marca
Aug 7, 2012·European Journal of Internal Medicine·M FenuL Demelia
Apr 16, 2014·Annals of the New York Academy of Sciences·Si Houn Hahn
Oct 6, 2015·Molecular Genetics & Genomic Medicine·Irini Manoli, Helen Fryssira
May 19, 2017·Journal of Human Genetics·Ja-Hyun JangEun-Hae Cho
Aug 13, 2011·Journal of Pediatric Gastroenterology and Nutrition·Luis Peña-QuintanaAntonio Tugores
Aug 13, 2011·Journal of Pediatric Gastroenterology and Nutrition·Stuart Tanner
Mar 19, 2019·Molecular Genetics & Genomic Medicine·Zhiling QianShichang Cui
May 9, 2018·Current Neuropharmacology·Bo Wang, Xiao-Ping Wang
Dec 23, 2015·World Journal of Hepatology·Kryssia Isabel Rodriguez-CastroGiacomo Carlo Sturniolo
Aug 27, 2019·Hepatology : Official Journal of the American Association for the Study of Liver Diseases·Thomas Damgaard SandahlPeter Ott
Sep 27, 2018·Genetics in Medicine : Official Journal of the American College of Medical Genetics·Jiali GaoJake P Mann
Nov 8, 2020·Journal of Gastroenterology·Luis García-VillarrealAntonio Tugores

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