A novel splicing mutation in the PKD1 gene causes autosomal dominant polycystic kidney disease in a Chinese family: a case report.
BMC Med Genet
; 19(1): 198, 2018 11 13.
Article
en En
| MEDLINE
| ID: mdl-30424739
BACKGROUND: Autosomal dominant polycystic kidney disease (ADPKD) is the most common monogenic renal disorder in humans, affecting 1 in 400 to 1000 individuals. Mutations PKD1 (which accounts for 85% of ADPKD and produces polycystin-1) and PKD2 (produces polycystin-2) are responsible for this disease. These two polycystins are critical for maintaining normal renal tubular structures during kidney development. CASE PRESENTATION: We performed genetic analysis on a family with ADPKD. DNA samples extracted from ADPKD patient blood were subject to targeted Next generation sequencing for human a panel of renal disease-related genes. A splicing mutation, c.2854-3C > G (also known as IVS11-3C > G), in the PKD1 gene was found in the 3 patients from the family, but was not found in four unaffected relatives and 100 normal control samples. Reverse transcription-PCR (RT-PCR) was performed to analyse the relative mRNA expression in the patient samples. mRNA sequencing showed that 29 bases inserted into the 3'-end of exon 11 in the PKD1 gene lead to a frameshift mutation. CONCLUSIONS: The PKD1 c.2854-3C > G mutation leads to a frameshift mutation during translation of the polycystin-1 protein, which eventually led to ADPKD in the Chinese family.
Palabras clave
Texto completo:
1
Colección:
01-internacional
Base de datos:
MEDLINE
Asunto principal:
Empalme del ARN
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Mutación del Sistema de Lectura
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Riñón Poliquístico Autosómico Dominante
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Canales Catiónicos TRPP
Tipo de estudio:
Etiology_studies
Límite:
Adult
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Female
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Humans
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Male
/
Middle aged
Idioma:
En
Revista:
BMC Med Genet
Asunto de la revista:
GENETICA MEDICA
Año:
2018
Tipo del documento:
Article
País de afiliación:
China
Pais de publicación:
Reino Unido