Effects of RTTN Gene Mutations and the Need for Complementary cDNA Analysis for Some Transcripts

Abstract

Introduction: Prenatal WES analysis is currently required in prenatal diagnosis in case of multiple congenital anomalies and in families where some genetic diseases are reported. However, with development of prenatal WES, practitioners are sometimes facing a lot of challenge regarding interpretation of the genetic results. Method: Prenatal WES analysis. Result: Detection of two different RTTN gene transcripts in fetal WES. One of the transcripts showed RTTN homozygous gene mutation while the other transcript was normal. Discussion: This result emphasizes difficulty of genetic counselling in case of absence of prenatal radiological findings or late findings. Conservative fetal follow up was advised because of absence of any positive radiological finding. Conclusion: This article presents the multidisciplinary approach in prenatal and postnatal counselling for cases with quiry fetal genetic findings and illustrates the urgent need for development of transcriptome analysis for the fetus with WES findings of uncertain significance.