Novel mutation of FKBP10 in a pediatric patient with osteogenesis imperfecta type XI identified by clinical exome sequencing
| Autor: | Jessica L Morales, Harvy Velasco |
|---|---|
| Rok vydání: | 2017 |
| Předmět: |
0301 basic medicine
Genetics osteogenesis imperfecta type XI Pediatrics medicine.medical_specialty business.industry diagnostic odyssey Case Report Disease Semiology medicine.disease Natural history FKBP10 03 medical and health sciences 030104 developmental biology Osteogenesis imperfecta Mutation (genetic algorithm) medicine Family history business Novel mutation Genetics (clinical) Exome sequencing |
| Zdroj: | The Application of Clinical Genetics |
| ISSN: | 1178-704X |
| DOI: | 10.2147/tacg.s126277 |
| Popis: | Osteogenesis imperfecta (OI) is a hereditary disease characterized by bone fragility caused by mutations in the proteins that support the formation of the extracellular matrix in the bone. The diagnosis of OI begins with clinical suspicion, from phenotypic findings at birth, low-impact fractures during childhood or family history that may lead to it. However, the variability in the semiology of the disease does not allow establishing an early diagnosis in all cases, and unfortunately, specific clinical data provided by the literature only report 28 patients with OI type XI. This information is limited and heterogeneous, and therefore, detailed information on the natural history of this disease is not yet available. This paper reports the case of a male patient who, despite undergoing multidisciplinary management, did not have a diagnosis for a long period of time, and could only be given one with the use of whole-exome sequencing. The use of the next-generation sequencing in patients with ultrarare genetic diseases, including skeletal dysplasias, should be justified when clear clinical criteria and an improvement in the quality of life of the patients and their families are intended while reducing economic and time costs. Thus, this case report corresponds to the 29th patient affected with OI type XI, and the 18th mutation in FKBP10, causative of this pathology. |
| Databáze: | OpenAIRE |
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