Article
Intragenic Deletions in FLNB Are Part of the Mutational Spectrum Causing Spondylocarpotarsal Synostosis Syndrome.
Genes - 5 Apr 2021
Fukushima Kaya, Parthasarathy Padmini, Wade Emma M, Morgan Tim, Gowrishankar Kalpana, Markie David M, Robertson Stephen P
Abstract excerpt
Spondylocarpotarsal synostosis syndrome (SCT) is characterized by vertebral fusions, a disproportionately short stature, and synostosis of carpal and tarsal bones. Pathogenic variants in FLNB, MYH3, and possibly in RFLNA, have been reported to be responsible for this condition. Here, we present two unrelated individuals presenting with features typical of SCT in which Sanger sequencing combined with whole genome...
Topics
- Abnormalities, Multiple
- Adult
- Child
- Female
- Filamins
- Gene Deletion
- Humans
- Lumbar Vertebrae
- Male
- Musculoskeletal Diseases
- Mutation