Detection of a novel mutation in a Tunisian child with polycystic kidney disease.
IUBMB Life
; 72(8): 1799-1806, 2020 08.
Article
em En
| MEDLINE
| ID: mdl-32472977
ABSTRACT
Autosomal Dominant Polycystic Kidney Disease (ADPKD) is the most common monogenic disease that has an adverse impact on the patients' health and quality of life. ADPKD is usually known as "adult-type disease," but rare cases have been reported in pediatric patients. We present here a 2-year-old Tunisian girl with renal cyst formation and her mother with adult onset ADPKD. Disease-causing mutation has been searched in PKD1 and PKD2 using Long-Range and PCR followed by sequencing. Molecular sequencing displayed us to identify a novel likely pathogenic mutation (c.696 T > G; p.C232W, exon 5) in PKD1. The identified PKD1 mutation is inherited and unreported variant, which can alter the formation of intramolecular disulfide bonds essential for polycystin-1 function. We report here the first mutational study in pediatric patient with ADPKD in Tunisia.
Palavras-chave
Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Rim Policístico Autossômico Dominante
/
Predisposição Genética para Doença
/
Canais de Cátion TRPP
Tipo de estudo:
Diagnostic_studies
/
Prognostic_studies
Limite:
Child, preschool
/
Female
/
Humans
País/Região como assunto:
Africa
Idioma:
En
Revista:
IUBMB Life
Assunto da revista:
BIOLOGIA MOLECULAR
/
BIOQUIMICA
Ano de publicação:
2020
Tipo de documento:
Article
País de afiliação:
Tunísia