Genetic analysis in 2 pedigrees with bilateral multicystic dysplastic kid-ney associated with JAG1 mutation
Aim:To clarify the genetic etiology in 2 pedigrees with bilateral multicystic dysplastic kidney(MCDK)and to provide genetic counselling for further pregnancy.Methods:Two fetuses of gestational age 16+weeks and 18+weeks were detected by ultrasound examination,and found manifestation of bilateral MCDK.The parents determined to terminate the pregnancy after genetic counselling.Whole exome sequencing was performed by using the skin tissue collected from the fetuses.PCR and Sanger sequencing were used to confirm the results by using the skin samples of fetuses and blood samples of the parents.Results:The fetus in pedigree 1 carried a frameshift mutation of JAG1 gene c.2078_2079delGT(p.Cys693fs),inherited from the mother.The fetus in pedigree 2 carried a frameshift mutation of JAG1 gene c.3548_3552delAGAAG(p.Glu1183fs)derived from the mother.Combined with the ultrasound manifestations and family histories,the fetuses with bilateral MCDK in these 2 pedigrees were diagnosed as Alagille syndrome(ALGS).Conclusion:The genet-ic etiology of the fetuses in these 2 pedigrees with bilateral MCDK was confirmed as ALGS.
国家科技期刊平台
NSTL
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