Two novel mutations identified in PKHD1 gene from parents of two fetuses with infantile polycystic k

• 作 者: Xiaoyan Guo Chunyan Zhou Zhihong Wang Juan Liao Fenghua Lan
• 机 构: Fuzhou General Hospital,Fuzhou 350025,China
• 出 处: 中华医学会2012年医学遗传学年会暨全国第十一次医学遗传学学术会议
• 发表日期: 2012年8期
• 关键词: Infantile polycystic kidney disease PKHD1 gene gene mutation mutational analysis

　　Autosomal recessive polycystic kidney disease(ARPKD)is a severe genetic disorder that predominantly affects the kidneys and/or liver and typically manifests in neonatal and infantile period.Patients with severe ARPKD perinatally exhibits massively enlarged echogenic kidneys and oligohydramnios accompanying pulmonary hypoplasia,often leading to neonatal demise.All typical phenotypes of ARPKD are attributed to mutations in the disease gene PKHD1(polycystic kidney and hepatic disease 1).Here we studied a Chinses pedigree of ARPKD through directly sequencing those exons that belong to the longest open reading frame(ORF),and confirming the key mutations using restriction assay or DHPLC(denaturing high-performance liquid chromatography).We found 16 mutations and 11SNP in the parents of the affected fetuses.Among these,2 truncating mutations are novel ones that terminate the chain of the longest ORF.It was concluded that both fetuses in the pedigree simultaneously inherited the two novel truncating mutations from their parents.