title: FGFR3 mutation in thanatophoric dysplasia type 1 with bilateral cystic renal dysplasia: coincidence or a new association?
abstract: Thanatophoric dysplasia (TD) is a lethal dwarfism condition due to missense mutations in the fibroblast growth factor receptor 3 (FGFR3) gene. Examination of TD patients reveals mainly the involvement of the skeletal system and the brain, but also renal and cardiovascular anomalies have been described. We report the prenatal detection of TD type 1 (TD1) associated with bilateral cystic renal dysplasia (CRD) Potter's type II, in which the molecular analysis reveals the typical Arg248Cys substitution in the FGFR3 gene. CRD has not been previously described in TD or other conditions due to FGFR3 mutations, but occurs in Apert syndrome (due to FGFR2 mutations). The possible involvement of renal developmental defect in FGFR3 mutations is discussed.
authors: University of Ferrara, Dept. Of Medical Genetics, 44100-Ferrara, Italy. pprontera@hotmail.com
authors: P
authors: P
authors: Prontera
authors: A
authors: A
authors: Sensi
authors: G
authors: G
authors: Pilu
authors: M
authors: M
authors: Baldi
authors: M
authors: M
authors: Baffico
authors: R
authors: R
authors: Bonasoni
authors: E
authors: E
authors: Calzolari
mesh_terms: D000028:Abortion, Induced; D000328:Adult; D017809:Fatal Outcome; D005260:Female; D005315:Fetal Diseases; D006801:Humans; D021782:Multicystic Dysplastic Kidney / Q000150:complications* / Q000235:genetics*; D017354:Point Mutation / Q000235:genetics*; D011247:Pregnancy; D051498:Receptor, Fibroblast Growth Factor, Type 3 / Q000235:genetics*; D013796:Thanatophoric Dysplasia / Q000150:complications* / Q000235:genetics*
chemical_list: C496365:FGFR3 protein, human; D051498:Receptor, Fibroblast Growth Factor, Type 3