Genomic study of severe fetal anomalies and discovery of GREB1L mutations in renal agenesis

• Published in: Genetics in medicine Vol. 20; no. 7; pp. 745 - 753
• Main Authors: Boissel, Sarah, Fallet-Bianco, Catherine, Chitayat, David, Kremer, Valérie, Nassif, Christina, Rypens, Françoise, Delrue, Marie-Ange, Dal Soglio, Dorothée, Oligny, Luc L., Patey, Natalie, Flori, Elisabeth, Cloutier, Mireille, Dyment, David, Campeau, Philippe, Karalis, Aspasia, Nizard, Sonia, Fraser, William D., Audibert, François, Lemyre, Emmanuelle, Rouleau, Guy A., Hamdan, Fadi F., Kibar, Zoha, Michaud, Jacques L.
• Format: Journal Article
• Language: English
• Published: New York Elsevier Inc 01.07.2018; Nature Publishing Group US; Elsevier Limited
• Subjects: Abnormalities, Multiple - genetics; Abnormalities, Multiple - pathology; Adult; Anal Canal - abnormalities; Biomedical and Life Sciences; Biomedicine; Congenital Abnormalities - genetics; Esophagus - abnormalities; Family; Female; Fetus - abnormalities; Fetus - pathology; Genomics; Genotype; Heart Defects, Congenital - genetics; Human Genetics; Humans; Hydrocephalus - genetics; Kidney - abnormalities; Kidney Diseases - congenital; Kidney Diseases - genetics; Laboratory Medicine; Limb Deformities, Congenital - genetics; Male; Mutation; Neoplasm Proteins - genetics; Phenotype; Pregnancy; Prenatal Diagnosis - methods; Spine - abnormalities; Stillbirth - genetics; Trachea - abnormalities; Tracheoesophageal Fistula - genetics; Urogenital Abnormalities - genetics; Whole Exome Sequencing - methods

Fetal anomalies represent a poorly studied group of developmental disorders. Our objective was to assess the impact of whole-exome sequencing (WES) on the investigation of these anomalies. We performed WES in 101 fetuses or stillborns who presented prenatally with severe anomalies, including renal a...