A First-Case Report of Pycnodysostosis in an Omani Boy
| Autor: | Aliya Al-Hosni, Ashwaq Al Maimani, Musallam Al-Araimi |
|---|---|
| Rok vydání: | 2020 |
| Předmět: |
0301 basic medicine
Genetics Sanger sequencing 030105 genetics & heredity Biology medicine.disease Short stature Cathepsin K Gene 03 medical and health sciences symbols.namesake 030104 developmental biology Pediatrics Perinatology and Child Health Pycnodysostosis medicine symbols Skeletal abnormalities Dysmorphic facial features medicine.symptom Exome Genetics (clinical) Sequence (medicine) |
| Zdroj: | J Pediatr Genet |
| ISSN: | 2146-460X 2146-4596 |
| DOI: | 10.1055/s-0040-1714364 |
| Popis: | Here we reported on the genetic findings of a 9-year-old Omani boy with a rare inherited bone disorder. The patient's clinical features include dysmorphic facial features, short stature, and skeletal abnormalities. Exome sequence of the patient's deoxyribonucleic acid revealed a variant in the cathepsin K gene, which was confirmed by Sanger sequencing. These findings established the diagnosis of pycnodysostosis (PKND). To the best of the authors' knowledge, this case is the first case to be reported in the Gulf Cooperative Region of the novel PKND with molecular confirmation. |
| Databáze: | OpenAIRE |
| Externí odkaz: |
|