A Novel Heterozygous Missense Variant in Parathyroid Hormone 1 is Related to the Occurrence of Developmental Dysplasia of the Hip.
Genet Test Mol Biomarkers
; 27(3): 74-80, 2023 Mar.
Article
en En
| MEDLINE
| ID: mdl-36989525
ABSTRACT
Introduction:
Developmental dysplasia of the hip (DDH) is one of the most common diseases in the pediatric orthopedics, with an incidence of 1-5%. Genetic factors are the bases of the pathogenesis of DDH, but the pathogenic variants and pathogenesis of DDH are still unknown. There are no key accurate diagnostic or prognostic molecular markers for DDH. The purpose of our study was to screen for genetic variant associated with DDH and explore its pathogenesis. Materials andMethods:
The genetic variation of DDH was tested by variant NGS-based exome analyses, verified by the Sanger sequencing.Results:
A four-generation family in which DDH was present in three generations was recruited. A novel heterozygous missense variant c.629C>T (p.(Ala210Val)) in exon 7/8 of the parathyroid hormone 1 receptor (PTH1R) gene was identified through screening of two affected and one unaffected family members. The candidate variant was validated in all available family members with all three affected members being positive for the PTH1R variant.Conclusion:
Our results are highly supportive of PTH1R as a novel candidate gene for DDH and demonstrated that the combination of pedigree information and next-generation sequencing is an effective method for identifying pathogenic variants associated with DDH.Palabras clave
Texto completo:
1
Base de datos:
MEDLINE
Asunto principal:
Receptor de Hormona Paratiroídea Tipo 1
/
Displasia del Desarrollo de la Cadera
Tipo de estudio:
Prognostic_studies
Límite:
Female
/
Humans
/
Male
Idioma:
En
Revista:
Genet Test Mol Biomarkers
Asunto de la revista:
BIOLOGIA MOLECULAR
/
GENETICA
Año:
2023
Tipo del documento:
Article