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Wilson disease in Costa Rica: Pediatric phenotype and genotype characterization.

ABSTRACT: Introduction:The prevalence of Wilson disease (WD) in Costa Rica is among the highest reported in the world, 4.9:100?000. Previous investigators have also described a burden of autosomal recessive conditions in this country. Genetic testing for WD began in 2010 as a strategy for earlier detection due to the country's high prevalence. Here we describe what we have learned about the genotype and phenotype of the Costa Rican pediatric population with WD. Methods:We completed a retrospective review of medical records from pediatric individuals (<18?years of age) with molecular testing for ATP7B between 2010 and 2015. We documented phenotype and genotype for cases with WD as defined by the international scoring system. Results:Thirty-four WD cases from 28 families were included, 15 female and 19 male patients. The most frequent pathogenic variant in ATP7B was NM_000053:c.3809A>G, p.Asn1270Ser, with 58.8% of affected individuals homozygous for this variant. Age of diagnosis ranged from 1 to 17?years, with an average of 8.8?±?3.6?years. All individuals who presented with acute liver failure (n = 6) were homozygous for the p.Asn1270Ser variant (Chi-squared, P?

SUBMITTER: Penon-Portmann M

PROVIDER: S-EPMC7052697 | biostudies-literature | 2020 Mar

REPOSITORIES: biostudies-literature

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Wilson disease in Costa Rica: Pediatric phenotype and genotype characterization.

Penon-Portmann Monica M Lotz-Esquivel Stephanie S Chavez Carrera Alejandra A Jiménez-Hernández Mildred M Alvarado-Romero Danny D Segura-Cordero Sharon S Rimolo-Donadio Fiorella F Hevia-Urrutia Francisco F Mora-Guevara Alfredo A Saborío-Rocafort Manuel M Jiménez-Arguedas Gabriela G Badilla-Porras Ramsés R

JIMD reports 20200206 1

<h4>Introduction</h4>The prevalence of Wilson disease (WD) in Costa Rica is among the highest reported in the world, 4.9:100 000. Previous investigators have also described a burden of autosomal recessive conditions in this country. Genetic testing for WD began in 2010 as a strategy for earlier detection due to the country's high prevalence. Here we describe what we have learned about the genotype and phenotype of the Costa Rican pediatric population with WD.<h4>Methods</h4>We completed a retros ...[more]

PMID: 32154060

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Project description:AIM:To determine the mutational characterization of P-type ATP7B gene and to explore the correlation of ATP7B genotype to phenotype in Chinese patients with Wilson disease (WD). METHODS:Seventy-five patients with WD from 72 no-kinship families, 44 males and 31 females, were enrolled in this study. The age of onset ranged from 4 to 39 years, <=18 years in 72 patients. Some exons of ATP7B gene mutations were analyzed in patients with WD by using biochemical methods, polymerase chain reaction-single strand configuration polymorphism (PCR-SSCP) and DNA sequence analysis. A total of 778 coding regions were identified with restriction enzyme Msp I. The activity of Cu-ATPase was assessed by measuring inorganic phosphorus. RESULTS:Sixty-six of 75 patients (88%) had with hepatic manifestations, 39 of them had only hepatic manifestations, 27 patients had hepatic and neurological manifestations or other symptoms at the same time (16 patients had associated neurological manifestation, 3 patients had osteopathy, 8 patients had other symptoms). Eight of the 75 patients (10.7%) had only neurological symptoms, one patient (5 years old) had no symptom. Twelve changing patterns were detected in ATP7B gene by DNA sequencing, including seven mutations (R778L, C656X, G943D, V1140A, V1106I V1216M and 1384del17), six polymorphisms (IVS4-5t/c, A2495G, C2310G, IVS18+6c/t and IVS20+5a/g). R778L occurred in 49/66 patients (74%) with hepatic manifestations, homozygosis of R778L in 16 patients, heterozygosity of R778L in 33 patients. V1106I mutation of ATP7B gene occurred in 2 patients with delaying onset of clinical symptoms. Cu-ATPase activity of three patients with known mutations (R778L/V1106I/A2495G, R778L/V1216M and R778L/R778L) were determined, and the activity of Cu-ATPase was decreased by 44.55%, 88.23% and 69.49% respectively. CONCLUSION:1384del17bp is a novel mutation found in WD patients. R778L is the most common mutation of ATP7B gene. There is a correlation between R778L and hepatic manifestations in WD patient.

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Wilson disease in Costa Rica: Pediatric phenotype and genotype characterization.

Publications

Wilson disease in Costa Rica: Pediatric phenotype and genotype characterization.

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