Mutational screening in genes related with porto-pulmonary hypertension: An analysis of 6 cases. / Cribado mutacional en genes relacionados con la hipertensión portopulmonar: análisis de 6 casos.
Med Clin (Barc)
; 148(7): 310-313, 2017 Apr 07.
Article
em En, Es
| MEDLINE
| ID: mdl-28245912
ABSTRACT
INTRODUCTION:
Portopulmonary hypertension (PPH) is a rare disease with a low incidence and without a clearly-identified genetic component. The aim of this work was to check genes and genetic modifiers related to pulmonary arterial hypertension in patients with PPH in order to clarify the molecular basis of the pathology. PATIENTS We selected a total of 6 patients with PPH and amplified the exonic regions and intronic flanking regions of the relevant genes and regions of interest of the genetic modifiers.RESULTS:
Six patients diagnosed with PPH were analyzed and compared to 55 healthy individuals. Potentially-pathogenic mutations were identified in the analyzed genes of 5 patients. None of these mutations, which are highly conserved throughout evolution, were detected in the control patients nor different databases analyzed (1000 Genomes, ExAC and DECIPHER). After analyzing for genetic modifiers, we found different variations that could favor the onset of the disease.CONCLUSIONS:
The genetic analysis carried out in this small cohort of patients with PPH revealed a large number of mutations, with the ENG gene showing the greatest mutational frequency.Palavras-chave
Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Predisposição Genética para Doença
/
Hipertensão Portal
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Hipertensão Pulmonar
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Mutação
Tipo de estudo:
Diagnostic_studies
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Observational_studies
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Risk_factors_studies
/
Screening_studies
Limite:
Aged
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Female
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Humans
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Male
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Middle aged
Idioma:
En
/
Es
Ano de publicação:
2017
Tipo de documento:
Article