Article
Loss of function IFT27 variants associated with an unclassified lethal fetal ciliopathy with renal agenesis.
American journal of medical genetics. Part A - 1 Jul 2018
Quélin Chloé, Loget Philippe, Boutaud Lucile, Elkhartoufi Nadia, Milon Joelle, Odent Sylvie, Fradin Mélanie, Demurger Florence, Pasquier Laurent, Thomas Sophie, Attié-Bitach Tania
Abstract excerpt
Ciliopathies comprise a group of clinically heterogeneous and overlapping disorders with a wide spectrum of phenotypes ranging from prenatal lethality to adult-onset disorders. Pathogenic variants in more than 100 ciliary protein-encoding genes have been described, most notably those involved in intraflagellar transport (IFT) which comprises two protein complexes, responsible for retrograde (IFT-A) and...
Topics
- Ciliopathies
- Congenital Abnormalities
- Fatal Outcome
- Female
- Fetal Diseases
- Humans
- Kidney
- Kidney Diseases
- Male
- Mutation
- Pedigree