Two novel mutations of COMP in Japanese boys with pseudoachondroplasia
| Autor: | Gen Nishimura, Masaki Takagi, Tomonobu Hasegawa, Tomohiro Ishii, Yosuke Ichihashi, Kenji Watanabe |
|---|---|
| Rok vydání: | 2018 |
| Předmět: |
0301 basic medicine
Cartilage oligomeric matrix protein Genetics Thrombospondin lcsh:QH426-470 biology lcsh:Life 030105 genetics & heredity medicine.disease Biochemistry Multiple epiphyseal dysplasia lcsh:Genetics lcsh:QH501-531 03 medical and health sciences Pseudoachondroplasia 030104 developmental biology Data Report biology.protein medicine Molecular Biology Gene |
| Zdroj: | Human Genome Variation Human Genome Variation, Vol 5, Iss 1, Pp 1-3 (2018) |
| ISSN: | 2054-345X |
| Popis: | Mutations in the cartilage oligomeric matrix protein (COMP) gene cause both pseudoachondroplasia (PSACH) and multiple epiphyseal dysplasia (MED). Most mutations in COMP are located in the region encoding type 3 thrombospondin like domain (TSP3D). We report two Japanese boys with PSACH who had different novel in-frame deletions in TSP3D. The result recapitulates previous reports in that the in-frame deletions in TSP3D preferentially caused PSACH rather than MED. |
| Databáze: | OpenAIRE |
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