Renal Aplasia in Humans Is Associated with RET Mutations

• Published in: American journal of human genetics Vol. 82; no. 2; pp. 344 - 351
• Main Authors: Skinner, Michael A., Safford, Shawn D., Reeves, Justin G., Jackson, Margaret E., Freemerman, Alex J.
• Format: Journal Article
• Language: English
• Published: Chicago, IL Elsevier Inc 01.02.2008; University of Chicago Press; American Society of Human Genetics
• Subjects: Base Sequence; Biological and medical sciences; Fundamental and applied biological sciences. Psychology; General aspects. Genetic counseling; Genetics of eukaryotes. Biological and molecular evolution; Glial Cell Line-Derived Neurotrophic Factor - genetics; Humans; Kidney - abnormalities; Kidney Diseases - genetics; Medical genetics; Medical sciences; Molecular and cellular biology; Molecular Sequence Data; Mutagenesis, Site-Directed; Mutation - genetics; Phosphorylation; Plasmids - genetics; Proto-Oncogene Proteins c-ret - genetics; Proto-Oncogene Proteins c-ret - metabolism; Sequence Analysis, DNA; Human; Association; Aplasia; Malformation; Genetics; Mutation; Kidney

In animal models, kidney formation is known to be controlled by the proteins RET, GDNF, and GFRA1; however, no human studies to date have shown an association between abnormal kidney development and mutation of these genes. We hypothesized that stillborn fetuses with congenital renal agenesis or sev...