Novel variant р.Cys3024Tyr and frequent mutations in the PKHD1 gene in patients with autosomal recessive polycystic kidney disease from Russian Federation
https://doi.org/ 10.25557/2073-7998.2019.01.3-7
Abstract
Autosomal recessive polycystic kidney disease (ARPKD, Polycystic kidney disease 4 with or without hepatic disease, MIM 263200) is a severe genetic disorder with variable clinical spectrum. It is an important cause of renal-related and liver-related morbidity and mortality. ARPKD is caused by mutations in the PKHD1 gene which was mapped to chromosome 6p21-p12. A 67-exon transcript encodes one of the lon- gest continuous open reading frame. Protein polyductin is synthesized from this transcript. Mutations were found to be scattered through- out the gene without evidence of clustering. Searching for mutations is time-consuming and costly. We identified new variant c.9071G>A (р.Cys3024Tyr) in 14 families on 16 chromosomes which makes 12.7% mutations. This variant did not found on 1008 control chromosomes. Mutation c.107C>T (р.Thr36Met) occurs in 53% families with mutation on 41% chromosomes. Mutations c.1486C>T (р.Arg496Ter) and c.9524A>G (р.Asn3175Ser) occur in 10% families each. Mutation analysis in PKHD1 gene is very important for confirming the ARPKD diag- nosis and genetic counseling with following prenatal diagnosis.
About the Authors
N. N. Vasserman
Research Centre for Medical Genetic
Russian Federation
Russian Federation
A. V. Polyakov
Research Centre for Medical Genetic
Russian Federation
Russian Federation
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Review
For citations:
Vasserman N.N., Polyakov A.V. Novel variant р.Cys3024Tyr and frequent mutations in the PKHD1 gene in patients with autosomal recessive polycystic kidney disease from Russian Federation. Medical Genetics. 2019;18(1):3-7. (In Russ.) https://doi.org/ 10.25557/2073-7998.2019.01.3-7
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