Prenatal Diagnosis of Joubert Syndrome With Whole Exome Sequencing

Joubert syndrome(JS), was first discovered by Marie Joubert, which is a rare autosomal recessive inherited disease belonging to ciliopathy with the causative mutation of genes. A 27-years-old woman referred our clinic for advanced research over detection fetal renal cyst.We observed policycstic kidney in detailed examination.INPP5E detected on chorion villus sampling.We were thought may be this findings will associated syndrome, primarily joubert syndorme (JS),upon vermis hypoplasia, policyctic and molar teeth sign USG 23rd week pregnancy.The posterior fossa expansion bilateral polycystic seen MRI radiologist reported as Dandy-Walker depend findings.They did not pay attention tooth finding.We explanied prognosis suggeted termination family.The family accepted fetus terminated. The most common characteristic brain image JS sign(MTS) axial plane, cerebellar (CV) deepened interpeduncular fossa.The MTS key diagnostic feature disease. So far, more than 30 genes have been found various subtypes JSRD.One them INPP5E. Defects additional extra-nervous systems involve disease, retinal degeneration, skeletal defects (such polydactyly), liver disorder.
 Syndrome can diagnosed prenatally period.MTS easily usg during prenatal period.The vermian hypoplasia organ anomalies must brought mind should searched.