Estimation of Wilson's Disease Incidence and Carrier Frequency in the Korean Population by Screening<i>ATP7B</i>Major Mutations in Newborn Filter Papers Using the SYBR Green Intercalator Method Based on the Amplification Refractory Mutation System

Kim, Gu-Hwan; Yang, Jeong; Park, Jung-Young; Lee, Jin Joo; Kim, Ju Hyun; Yoo, Han‐Wook

doi:10.1089/gte.2008.0016

Cited by 34 publications

(20 citation statements)

References 14 publications

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“…WD is a disorder of copper metabolism caused by mutations in the ATP7B. In the present study, the carrier frequency of WD-related mutations was 1 in 85, similar to that previously reported (1 in 88-90); 14,16 however, this carrier frequency is lower than that reported by Park et al 11 Given that the seven mutations that we investigated represent 60.6% of the genetic variation in Korean WD patients, 17 we presume that the actual carrier frequency of WD in the Korean is approximately 1 in 51.…”

Section: Discussionsupporting

confidence: 90%

“…There was no significant difference between males and females with regard to carrier frequencies for the different disease. Our results update the previously reported carrier frequencies for WD (1 in 88) 14 and NSHL due to the GJB2-or SLC26A4-related mutations (1 in 38 and 1 in 60, respectively). 8,15 In addition, this is the first report of carrier frequencies for GSD Ia, PKU, CH due to the TSHR-related mutations, and CLAH in the Korean population by molecular genetic analysis.…”

Section: Discussionsupporting

confidence: 90%

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Estimation of carrier frequencies of six autosomal-recessive Mendelian disorders in the Korean population

Song

Lee

et al. 2011

J Hum Genet

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Although many studies have been performed to identify mutations in Korean patients with various autosomal-recessive Mendelian disorders (AR-MDs), little is known about the carrier frequencies of AR-MDs in the Korean population. Twenty common mutations from six AR-MDs, including Wilson disease (WD), non-syndromic hearing loss (NSHL), glycogen storage disease type Ia (GSD Ia), phenylketonuria (PKU), congenital hypothyroidism (CH), and congenital lipoid adrenal hyperplasia (CLAH) were selected to screen for based on previous studies. A total of 3057 Koreans were genotyped by matrix-assisted laser desorption/ionization time-of-flight mass spectrometry followed by confirmation using the Sanger sequencing. We found 201 and 8 carriers with either one or two mutations in different genes, respectively, yielding a total carrier frequency of 1 in 15 (6.7%). Of the six AR-MDs, NSHL has the highest carrier frequency followed by WD, CH, CLAH, GSD Ia, and PKU. As carrier screening tests are becoming prevalent and the number of mutations known and tested is rising, a priori data on the carrier frequencies in different ethnic groups is mandatory to plan a population screening program and to estimate its efficiency. In light of this, the present results can be used as a basis to establish a screening policy for common AR-MRs in the Korean population.

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Section: Discussionsupporting

confidence: 90%

Section: Discussionsupporting

confidence: 90%

Estimation of carrier frequencies of six autosomal-recessive Mendelian disorders in the Korean population

Song

Lee

et al. 2011

J Hum Genet

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“…Four studies from South Korea analyzed the frequency of the 3, 4, 6, or 7 most common mutations in South Korea in samples from 500, 476, 14,835, and 3,057 individuals, respectively. The corresponding genetic prevalence estimates were 1:3,000, 1:30,800, 1:7,500, and 1:27,000, respectively . These results have been taken to suggest a higher prevalence in South Korea than in the rest of the world, but selection biases may have hampered this conclusion.…”

Section: Resultsmentioning

confidence: 99%

The Prevalence of Wilson’s Disease: An Update

et al. 2020

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Background and Aims In 1984, Scheinberg and Sternlieb estimated the prevalence of Wilson’s disease to be 1:30,000 based on the limited available data. This suggested a large number of overlooked cases with potentially fatal consequences. The “Scheinberg‐Sternlieb Estimate” is still widely used, although more recent clinical and genetic studies of higher quality are now available. In the present study, we included these data to update the prevalence estimate. Approach and Results A MEDLINE Ovid, Science Citation Index Expanded, and PubMed systematic search for all relevant studies on the prevalence of Wilson’s disease was conducted. In total, 59 studies (50 clinical and 9 population‐based genetic) were included in the final analysis. We identified 4 recent clinical studies based on nationwide databases of high quality, providing prevalence estimates from 1:29,000 to 1:40,000. Higher frequency populations do exist because of frequent first‐cousin marriages and/or a higher mutation frequency. When calculating prevalence from the incidence related to number of births, estimates were 1:40,000‐1:50,000. Clinical screening studies, including examination for Kayser‐Fleischer rings or ceruloplasmin, did not improve these estimates because of insufficient sample size or selection biases. Population‐based genetic studies in US and UK populations were not in disagreement with the clinically based estimates. At the same time, studies from France and Sardinia suggested that the genetic prevalence may be 3‐4 times higher than the clinical disease prevalence. This raises the question whether the penetrance is indeed 100% as generally assumed. Conclusions The original prevalence estimate from 1984 of 1:30,000‐1:50,000 still appears valid, at least for the United States, Europe, and Asia. In some population‐based studies, the genetic prevalence was 3‐4 times higher than clinically based estimates. The question of penetrance needs further evaluation.

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“…[156][157][158][159] Other conditions for which there have been ongoing NBS pilot studies include citrin deficiency, 160 SCID, 161 Fragile-X syndrome, 162 X-ALD, 44 and Wilson's disease. 163 Currently, Taiwan is the only country in the region that includes both Pompe disease and SCID in the national panel of conditions. The screening coverage rate is reported to be approximately 95% for Pompe disease and 85-88% for SCID.…”

Section: Asia Pacificmentioning

confidence: 99%