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Genetic diagnosis and prenatal diagnosis of autosomal dominant polycystic kidney disease / 中华医学遗传学杂志
Chinese Journal of Medical Genetics ; (6): 419-423, 2019.
Article in Chinese | WPRIM | ID: wpr-771999
ABSTRACT
OBJECTIVE@#To explore the genetic etiology for 17 pedigrees affected with autosomal dominant polycystic kidney disease (ADPKD).@*METHODS@#Peripheral blood samples were derived from the probands and their parents with informed consent. Following DNA extraction, targeted capture and next generation sequencing were carried out in search for potential disease-causing variants. Sanger sequencing was used to validate candidate pathogenic variants co-segregating with the disease in each pedigree. Prenatal diagnosis was provided for one family.@*RESULTS@#Among the 17 probands, 14 PKD1 mutations and 3 PKD2 mutations were detected, which included 6 missense mutations, 4 nonsense mutations and 7 frameshift mutations. Of these, 8 have been associated with ADPKD previously and 9 were novel, which included c.7625G>T (p.Gly2542Val), c.3673C>T (p.Gln1225*), c.11048dupT (p.Thr3684Aspfs*38), c.9083_9084delAG (p.Glu3028Glyfs*40), c.10560delG (p.Pro3521Hisfs*6), c.7952_7974del TGTCCCTGAGGGTCCACACTGTG (p.Val2651Glyfs*2) of PKD1, and c.662T>G (p.Leu221*), c.1202_1203 insCT (p.Glu401Aspfs*2), and c.919 delA (p.Ser307Valfs*10) of PKD2. Prenatal testing showed that the fetus did not carry the same mutation as the proband.@*CONCLUSION@#Identification of causative mutations in the 17 pedigrees affected with ADPKD has provided a basis for genetic counseling and reproductive guidance. The novel findings have enriched the mutational spectrum of the PKD1 and PKD2 genes.
Subject(s)
Full text: Available Index: WPRIM (Western Pacific) Main subject: Pedigree / Prenatal Diagnosis / DNA Mutational Analysis / Polycystic Kidney, Autosomal Dominant / TRPP Cation Channels / Mutation Type of study: Diagnostic study / Practice guideline / Prognostic study Limits: Female / Humans / Pregnancy Language: Chinese Journal: Chinese Journal of Medical Genetics Year: 2019 Type: Article

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Full text: Available Index: WPRIM (Western Pacific) Main subject: Pedigree / Prenatal Diagnosis / DNA Mutational Analysis / Polycystic Kidney, Autosomal Dominant / TRPP Cation Channels / Mutation Type of study: Diagnostic study / Practice guideline / Prognostic study Limits: Female / Humans / Pregnancy Language: Chinese Journal: Chinese Journal of Medical Genetics Year: 2019 Type: Article