Back to Search
Start Over
A Genomic Approach to Delineating the Occurrence of Scoliosis in Arthrogryposis Multiplex Congenita
- Source :
- Genes, Volume 12, Issue 7, Genes, Vol 12, Iss 1052, p 1052 (2021)
- Publication Year :
- 2021
- Publisher :
- Multidisciplinary Digital Publishing Institute, 2021.
-
Abstract
- Arthrogryposis multiplex congenita (AMC) describes a group of conditions characterized by the presence of non-progressive congenital contractures in multiple body areas. Scoliosis, defined as a coronal plane spine curvature of ≥10 degrees as measured radiographically, has been reported to occur in approximately 20% of children with AMC. To identify genes that are associated with both scoliosis as a clinical outcome and AMC, we first queried the DECIPHER database for copy number variations (CNVs). Upon query, we identified only two patients with both AMC and scoliosis (AMC-SC). The first patient contained CNVs in three genes (FBN2, MGF10, and PITX1), while the second case had a CNV in ZC4H2. Looking into small variants, using a combination of Human Phenotype Ontogeny and literature searching, 908 genes linked with scoliosis and 444 genes linked with AMC were identified. From these lists, 227 genes were associated with AMC-SC. Ingenuity Pathway Analysis (IPA) was performed on the final gene list to gain insight into the functional interactions of genes and various categories. To summarize, this group of genes encompasses a diverse group of cellular functions including transcription regulation, transmembrane receptor, growth factor, and ion channels. These results provide a focal point for further research using genomics and animal models to facilitate the identification of prognostic factors and therapeutic targets for AMC.
- Subjects :
- Genetic Markers
musculoskeletal diseases
DNA Copy Number Variations
DA (distal arthrogryposis)
Genomics
Computational biology
Scoliosis
QH426-470
Biology
Article
03 medical and health sciences
Genetics
medicine
Humans
Copy-number variation
Human phenotype
Gene
CNV (copy number variant)
Genetics (clinical)
030304 developmental biology
Arthrogryposis
0303 health sciences
Amyoplasia
scoliosis
Arthrogryposis multiplex congenita
Gene Expression Profiling
030305 genetics & heredity
DECIPHER (DatabasE of genomiC variation and Phenotype in Humans using Ensemble Resources)
IGF2
medicine.disease
Pathway analysis
HPO (human phenotype ontology)
Phenotype
Gene Expression Regulation
akinesia
MYOD
IPA (ingenuity pathway analysis)
Subjects
Details
- Language :
- English
- ISSN :
- 20734425
- Database :
- OpenAIRE
- Journal :
- Genes
- Accession number :
- edsair.doi.dedup.....0fe47947c8ed35f0621be50f421d2862
- Full Text :
- https://doi.org/10.3390/genes12071052