Haplotype analysis of CLDN19 single nucleotide polymorphisms in Spanish patients with familial hypomagnesemia with hypercalciuria and nephrocalcinosis.
World J Pediatr
; 11(3): 272-5, 2015 Aug.
Article
em En
| MEDLINE
| ID: mdl-25410674
ABSTRACT
BACKGROUND:
Familial hypomagnesemia with hypercalciuria and nephrocalcinosis (FHHNC) is an autosomal recessive tubular disease caused by mutations in the CLDN16 or CLDN19 gene. Previous studies using microsatellite markers flanking the CLDN19 locus estimated that p.G20D (c.59G>A), a recurrent mutation in Spanish families, is a founder mutation. In the present study, we assessed the haplotype of Spanish patients using single nucleotide polymorphisms (SNPs).METHODS:
Twenty-seven FHHNC patients were included in this study. We analyzed four SNPs located in CLDN19 introns 3 and 4 by polymerase chain reaction amplification and DNA sequencing.RESULTS:
Three new patients with homozygous p.G20D were identified. The SNP genotyping analysis showed that alleles carrying this mutation shared a common SNP haplotype.CONCLUSIONS:
Our findings suggest the existence of a founder effect responsible for FHHNC in our cohort. Testing for the presence of mutation p.G20D should be the first genetic screening in Spanish patients.
Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Predisposição Genética para Doença
/
Polimorfismo de Nucleotídeo Único
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Hipercalciúria
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Claudinas
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Deficiência de Magnésio
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Nefrocalcinose
Tipo de estudo:
Etiology_studies
/
Incidence_studies
/
Observational_studies
/
Prognostic_studies
/
Risk_factors_studies
Limite:
Adolescent
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Adult
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Female
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Humans
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Male
País/Região como assunto:
Europa
Idioma:
En
Revista:
World J Pediatr
Assunto da revista:
PEDIATRIA
Ano de publicação:
2015
Tipo de documento:
Article
País de afiliação:
Espanha