Objective To explore the gene basis for a family with autosomal recessive polycystic kidney disease.Methods Clinical data and sample DNA were collected from the affected fetus and the parent.High-throughput sequencing was carried out to screen potential variants.Sanger sequencing was utilized to verify the variants of the family.Results Com-pound heterozygous variations of c.279_281+13delinsA(p.Arg94fs)in exon 4 and c.9769C＞T(p.Gln3257*)in exon 58 of the PKHD1 gene were identified in the fetus,which were inherited from the father and mother,respectively.Conclusion Two novel variations in PKHD1 probably underlay the pathogenesis of the ARPKD family.Above finding has enriched the spec-trum of PKHD1 gene variations and facilitated genetic counseling and reproduction guidance.
维普
万方数据