biostudies-literatureAl-Hamed MHMedical Research Council338-47https://www.ebi.ac.uk/biostudies/studies/S-EPMC4853542biostudies-literatureUnknown53(5)<h4>Background</h4>Inherited cystic kidney disorders are a common cause of end-stage renal disease. Over 50 ciliopathy genes, which encode proteins that influence the structure and function of the primary cilia, are implicated in cystic kidney disease.<h4>Methods</h4>To define the phenotype and genotype of cystic kidney disease in fetuses and neonates, we correlated antenatal ultrasound examination and postnatal renal ultrasound examination with targeted exon sequencing, using a renal gene panel. A cohort of 44 families in whom antenatal renal ultrasound scanning findings in affected cases included bilateral cystic kidney disease, echogenic kidneys or enlarged kidneys was investigated.<h4>Results</h4>In this cohort, disease phenotypes were severe with 36 cases of stillbirth or perinatal deJournal of medical geneticsGenetic spectrum of Saudi Arabian patients with antenatal cystic kidney disease and ciliopathy phenotypes using a targeted renal gene panel.PMC4853542MR/M012212/1Meyer BSayer JAKhalil DEl-Kalioby MAlabdullah ZAbudraz RBinhumaid FSMajid SAl-Hamed MHKurdi WEdwards NAlnemer MAl-Jurayb HTulbah MAlsahan NMonies DFaquih TTahir AIAlahmed AAltassan NAlbaqumi MKhan RAl Abdulaziz BAbouelhoda MfalseGenetic spectrum of Saudi Arabian patients with antenatal cystic kidney disease and ciliopathy phenotypes using a targeted renal gene panel.<h4>Background</h4>Inherited cystic kidney disorders are a common cause of end-stage renal disease. Over 50 ciliopathy genes, which encode proteins that influence the structure and function of the primary cilia, are implicated in cystic kidney disease.<h4>Methods</h4>To define the phenotype and genotype of cystic kidney disease in fetuses and neonates, we correlated antenatal ultrasound examination and postnatal renal ultrasound examination with targeted exon sequencing, using a renal gene panel. A cohort of 44 families in whom antenatal renal ultrasound scanning findings in affected cases included bilateral cystic kidney disease, echogenic kidneys or enlarged kidneys was investigated.<h4>Results</h4>In this cohort, disease phenotypes were severe with 36 cases of stillbirth or perinatal de2016-01-01T00:00:00Z2016 May2026-05-29T23:36:31.143Z2025-05-18T10:34:40.876ZS-EPMC48535422686215710.1136/jmedgenet-2015-103469