Genes, Vol. 12, Pages 1078: Prenatal Versus Postnatal Diagnosis of Meckel –Gruber and Joubert Syndrome in Patients with TMEM67 Mutations

Genes, Vol. 12, Pages 1078: Prenatal Versus Postnatal Diagnosis of Meckel–Gruber and Joubert Syndrome in Patients with TMEM67 Mutations Genes doi: 10.3390/genes12071078 Authors: Agnieszka Stembalska Małgorzata Rydzanicz Agnieszka Pollak Grazyna Kostrzewa Piotr Stawinski Mateusz Biela Rafal Ploski Robert Smigiel Renal cystic diseases are characterized by genetic and phenotypic heterogeneity. Congenital renal cysts can be classified as developmental disorders and are commonly diagnosed prenatally using ultrasonography and magnetic resonance imaging. Progress in molecular diagnostics and availability of exome sequencing procedures allows diagnosis of single-gene disorders in the prenatal period. Two patients with a prenatal diagnosis of polycystic kidney disease are presented in this article. TMEM67 mutations were identified in both fetuses using a whole-exome sequencing (WES) study. In one of them, the phenotypic syndrome diagnosed prenatally was different from that diagnosed in the postnatal period.
Source: Genes - Category: Genetics & Stem Cells Authors: Tags: Article Source Type: research