RT Journal Article SR Electronic T1 Genetic spectrum of Saudi Arabian patients with antenatal cystic kidney disease and ciliopathy phenotypes using a targeted renal gene panel JF Journal of Medical Genetics JO J Med Genet FD BMJ Publishing Group Ltd SP 338 OP 347 DO 10.1136/jmedgenet-2015-103469 VO 53 IS 5 A1 Mohamed H Al-Hamed A1 Wesam Kurdi A1 Nada Alsahan A1 Zainab Alabdullah A1 Rania Abudraz A1 Maha Tulbah A1 Maha Alnemer A1 Rubina Khan A1 Haya Al-Jurayb A1 Ahmed Alahmed A1 Asma I Tahir A1 Dania Khalil A1 Noel Edwards A1 Basma Al Abdulaziz A1 Faisal S Binhumaid A1 Salma Majid A1 Tariq Faquih A1 Mohamed El-Kalioby A1 Mohamed Abouelhoda A1 Nada Altassan A1 Dorota Monies A1 Brian Meyer A1 John A Sayer A1 Mamdouh Albaqumi YR 2016 UL http://jmg.bmj.com/content/53/5/338.abstract AB Background 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.Methods 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.Results In this cohort, disease phenotypes were severe with 36 cases of stillbirth or perinatal death. Extra renal malformations, including encephalocele, polydactyly and heart malformations, consistent with ciliopathy phenotypes, were frequently detected. Renal gene panel testing identified causative mutations in 21 out of 34 families (62%), where patient and parental DNA was available. In the remaining 10 families, where only parental DNA was available, 7 inferred causative mutations were found. Together, mutations were found in 12 different genes with a total of 13 novel pathogenic variants, including an inferred novel variant in NEK8. Mutations in CC2D2A were the most common cause of an antenatal cystic kidney disease and a suspected ciliopathy in our cohort.Conclusions In families with ciliopathy phenotypes, mutational analysis using a targeted renal gene panel allows a rapid molecular diagnosis and provides important information for patients, parents and their physicians.