Study of the Mutation C.1080 + 1g> t of Gene P3h1 in Patients With
Osteogenesis Imperfecta Served in the State of Espírito Santo,
Brazil
Name: MÁRIO SÉRGIO RIBEIRO DOS SANTOS
Publication date: 26/02/2019
Advisor:
Name |
Role |
|---|---|
| FLAVIA DE PAULA (M/D) | Advisor * |
| SANDRA LÚCIA VENTORIN VON ZEIDLER | Co-advisor * |
Examining board:
| Name |
Role |
|---|---|
| BRENO VALENTIM NOGUEIRA | Internal Examiner * |
| FLAVIA DE PAULA (M/D) | Advisor * |
| FLAVIA IMBROISI VALLE ERRERA | Internal Examiner * |
| MARIA DO CARMO PIMENTEL BATITUCCI | External Examiner * |
| SANDRA LÚCIA VENTORIN VON ZEIDLER | Co advisor * |
Summary: Osteogenesis imperfecta (OI) is a rare inherited bone disease characterized by fragile
and brittle bones that results in fractures in children and adults. It is a disorder related
to collagen, the main component of the extracellular matrix of connective tissues. In
recent years, many genes have been identified with different inheritance patterns
related to OI. These anomalies are commonly related to the mutations in genes
encoding type I collagen, responsible for the appearance of the dominant autosomal
forms of the disease. Among those inherited in an autosomal recessive form stands
out the P3H1 gene, the encoder of one of the three protein components forming the 3-
hydroxylation complex of proline of collagen type I. This work aimed to study the
c.1080+1G>T mutation of the gene P3H1 in patients with clinical diagnosis of OI in the
state of Espírito Santo (ES), Brazil. Sanger Sequencing was performed in 10 patients
attended at reference hospitals in the treatment of OI in the ES state. The
c.1080+1G>T mutation of the gene P3H1 was not identified in any patient studied in
this study. Despite the small sample size of this research, the results of this work
suggest that this mutation is rare in patients with ES. Characterizing the distribution of
mutations in genes related to OI increases our knowledge about the genetic and
phenotypic variability present in the disease in different populations and helps in the
planning of new strategies for molecular diagnoses of OI.
