Molecular Genetic Analysis of PKHD1 Mutations in Pedigrees With Autosomal Recessive Polycystic Kidney Disease
2018
Introduction. A wide variety of mutations are spread throughout the PKHD1 gene, which encodes a 4074-bp amino acid protein, namely
fibrocystin/polyductin, and is responsible for all features of autosomal recessive
polycystic kidney disease(ARPKD). Autosomal recessive
polycystic kidney diseaseis a hereditary early-onset form of
polycystic kidney diseasecharacterized by fusiform dilation of collecting ducts and
congenital hepatic fibrosis. The highest level of PKDH1 expression is in the kidneys of fetus and adults, suggesting the functionally importance of the gene in the mature kidney in addition to its role in
kidney development. Materials and Methods. Mutational analysis of the PKHD1 gene was performed in 11 families with a history of 1 to 6 fetuses or children affected by ARPKD, which either were aborted or died shortly after birth. Analyses were done using the Next Generation sequencing and
Sanger sequencingtechniques. Results. Four novel mutations, including c.6469C>T, c.9218 G>A, c.10456T>C, and c.8863C>G, and 3 previously reported ones, including c.9524A>G, c.1095G>A, c.1123C>T, were identified. Conclusions. In view of high
consanguineousmarriages in Iranian population, the frequency of disease is expected to be higher than the world average.
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