Mutational analysis of 65 Wilson disease patients in Hong Kong Chinese: Identification of 17 novel mutations and its genetic heterogeneity

Mak, Chloe Miu; Lam, Ching‐Wan; Tam, Sidney; Lai, Ching–Lung; Chan, Lik-Yuen; Fan, Sheung‐Tat; Lau, Yu‐Lung; Lai, Jak-Yiu; Yuen, Patrick Man Pan; Hui, Joannie; Fu, Chun-Cheung; Wong, Ka Sing; Mak, W.-L.; Tze, Kong; Tong, Sui-Fan; Lau, Amy Hing‐Ling; Leung, Nancy; Hui, Aric Josun; Cheung, Ka-Ming; Ko, Chih-Hsin; Chan, Yiu-Ki; Ma, Oliver; Chau, Tai Nin; Chiu, Alexander S.; Chan, Yan-Wo

doi:10.1007/s10038-007-0218-2

Cited by 65 publications

(33 citation statements)

References 35 publications

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“…as confirmed by dna sequencing, six individuals in our study were found to have the arg778leu mutation in exon 8, three individuals had the the Canadian Journal of neurologiCal SCienCeS 366 pro992leu mutation in exon 13, and two individuals had the 3061-3C> a heterozygous mutation in exon 14, which has been reported in the hld individuals from hong Kong and Macao 21 . Mutations in exons 12 and 16 were each detected in a single individual.…”

Section: Discussionsupporting

confidence: 81%

“…using a similar approach, hahn detected one Wd individual in 3,667 Korean children of three months to 15-year-old 25 . Mak et al detected three p.r778l carriers in 660 unrelated hong Kong Chinese subjects, estimating the incidence rate to be 1/5,400 21 . Mak's results suggested that Wd is the most common genetic disease involving the liver and nervous system in east asia 26 .…”

Section: Discussionmentioning

confidence: 99%

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Wilson Disease in the South Chinese Han Population

Cheng¹,

Wang

Hu³

et al. 2014

Can. J. Neurol. Sci.

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Wilson disease (Wd), also known as hepatolenticular degeneration (hld), is an autosomal recessive genetic disorder involving disruption of copper metabolism. Wilson disease is caused by mutations in the ATP7B gene on chromosome 13q14.3 encoding a p-type copper transporting adenosine triphosphate (atp) enzyme. the mutations of ATP7B gene leads to obstacles in bile excretion of copper in the liver and to obstacles in combination of copper with ceruloplasmin. it also causes the emergence of characteristic biochemical changes, including decreased ceruloplasmin (Cp) levels in the serum, increased copper content in the liver, and increased 24-hour urinary copper level. due to excessive deposition of copper in the liver, brain, kidney, cornea, and other tissues and organs, the main clinical ABSTRACT: Purpose: to prospectively investigate the incidence and prevalence of Wilson disease (Wd) in Chinese han population in anhui province, to analyze the genetic mutations in individuals with Wd, and to provide basic epidemiological data regarding Wd in this Chinese han population. Methods: between november 2008 and June 2010, individuals aged from 7 to 75 years were screened for the cornea K-f ring in both eyes using slit lamp examination and random sampling methods based on age stratification and cluster level 1. the participants were from anhui province's hanshan County, Jinzhai County, and lixin County. the clinical manifestations of the brain, liver, kidney, skin, and other organs in each individual were also determined. individuals with positive K-f rings and clinical manifestations indicative of Wd underwent copper biochemistry evaluations, abdominal ultrasound testing, and ATP7B gene mutation screening to confirm or exclude the diagnosis of Wd. Results: of 153,370 individuals investigated in this study, nine were diagnosed with Wd. in these Wd individuals, three cases had neurological symptoms, one has hepatic symptoms, one was hepatic and neurological combined, and the other four cases were presymptomatic. of the eight individuals in whom genetic mutations were detected, seven individuals had mutations in the ATP7B gene. the other individual had no ATP7B gene mutations but her copper biochemical test results met the diagnostic criteria for Wd. the incidence and prevalence of Wd in this population were approximately 1.96/100,000 and 5.87/100,000 respectively. Conclusion: the Chinese han population had a higher average prevalence of Wd than the populations of the united States or europe. Chez ces individus atteints de la MW, trois présentaient des manifestations neurologiques, un présentait des manifestations hépatiques, un présentait des manifestations hépatiques et neurologiques et les quatre autres étaient présymptomatiques. parmi les 8 individus chez qui des mutations génétiques ont été détectées, 7 avaient des mutations du gène atp7b. l'autre individu n'avait pas de mutation du gène atp7b mais ses résultats biochimiques pour le dosage du cuivre rencontraient les critères diagnostiques de la MW. l'incidence et la pr...

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Section: Discussionsupporting

confidence: 81%

Section: Discussionmentioning

confidence: 99%

Wilson Disease in the South Chinese Han Population

Cheng¹,

Wang

Hu³

et al. 2014

Can. J. Neurol. Sci.

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“…We found that c.3426G4C cosegregated in cis with c.3443T4C and the parental genotypes confirmed compound heterozygosity of c.3426G4C and c.3443T4C on the same chromosomes. This phenomenon had been described only in WD patients in Hong Kong Chinese, 22 which suggested that this cis-mutation might be specific for southern Chinese WD patients.…”

Section: Discussionmentioning

confidence: 97%

Mutation analysis of 73 southern Chinese Wilson's disease patients: identification of 10 novel mutations and its clinical correlation

et al. 2011

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“…As determined for other countries such as India 15 , China 16 , and USA 17 , the regional distribution of the WD mutations is important to be studied since these countries have a highly mixed population with diverse patterns of immigration.…”

Section: Discussionmentioning

confidence: 99%

Wilson's disease in Southern Brazil: genotype-phenotype correlation and description of two novel mutations in ATP7B gene

Raskin

Muzzillo

et al. 2013

Arq. Neuro-Psiquiatr.

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OBJECTIVE: Wilson's disease (WD) is an inborn error of metabolism caused by abnormalities of the copper-transporting protein encoding gene ATP7B. In this study, we examined ATP7B for mutations in a group of patients living in southern Brazil. METHODS: 36 WD subjects were studied and classified according to their clinical and epidemiological data. In 23 subjects the ATP7B gene was analyzed. RESULTS: Fourteen distinct mutations were detected in at least one of the alleles. The c.3207C>A substitution at exon 14 was the most common mutation (allelic frequency=37.1%) followed by the c.3402delC at exon 15 (allelic frequency=11.4%). The mutations c.2018-2030del13 at exon 7 and c.4093InsT at exon 20 are being reported for the first time. CONCLUSION: The c.3207C>A substitution at exon 14, was the most common mutation, with an allelic frequency of 37.1%. This mutation is the most common mutation described in Europe.

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Mutational analysis of 65 Wilson disease patients in Hong Kong Chinese: Identification of 17 novel mutations and its genetic heterogeneity

Cited by 65 publications

References 35 publications

Wilson Disease in the South Chinese Han Population

Wilson Disease in the South Chinese Han Population

Mutation analysis of 73 southern Chinese Wilson's disease patients: identification of 10 novel mutations and its clinical correlation

Wilson's disease in Southern Brazil: genotype-phenotype correlation and description of two novel mutations in ATP7B gene

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