Article
B9D1 is revealed as a novel Meckel syndrome (MKS) gene by targeted exon-enriched next-generation sequencing and deletion analysis.
Human molecular genetics - 1 Jul 2011
Hopp Katharina, Heyer Christina M, Hommerding Cynthia J, Henke Susan A, Sundsbak Jamie L, Patel Shail, Patel Priyanka, Consugar Mark B, Czarnecki Peter G, Gliem Troy J, Torres Vicente E, Rossetti Sandro, Harris Peter C
Abstract excerpt
Meckel syndrome (MKS) is an embryonic lethal, autosomal recessive disorder characterized by polycystic kidney disease, central nervous system defects, polydactyly and liver fibrosis. This disorder is thought to be associated with defects in primary cilia; therefore, it is classed as a ciliopathy. To date, six genes have been commonly associated with MKS (MKS1, TMEM67, TMEM216, CEP290, CC2D2A and RPGRIP1L)....
Topics
- Amino Acid Sequence
- Base Sequence
- Cilia
- Ciliary Motility Disorders
- Cytoskeletal Proteins
- Encephalocele
- Exons
- Female
- Fetus
- Fibroblasts