Article
Uniparental disomy as an unexpected cause of Meckel-Gruber syndrome: report of a case.
Pediatric nephrology (Berlin, Germany) - 1 Oct 2017
Bruechle Nadia Ortiz, Steuernagel Peter, Zerres Klaus, Kurth Ingo, Eggermann Thomas, Knopp Cordula
Abstract excerpt
BACKGROUND: Meckel-Gruber syndrome (MKS, OMIM #607361) is a rare pre- or perinatal lethal autosomal recessive ciliopathy caused by mutations in at least 12 known genes. It has a clinical and genetic overlap with other viable ciliopathies, especially Joubert syndrome and Joubert syndrome-related disorders. MKS is characterized by multicystic kidney dysplasia, central nervous system malformations (usually occipital...
Topics
- Abortion, Induced
- Adult
- Chromosomes, Human, Pair 8
- Ciliary Motility Disorders
- DNA Mutational Analysis
- Encephalocele
- Female
- Fetal Diseases
- Genetic Testing
- Homozygote
- Humans
- Karyotyping
- Male
- Membrane Proteins