Genetic analysis of seven pateints with Hereditary Multiple Osteochondromas (HMO).

ABSTRACT:

Background

HMO (Hereditary Multiple Osteochondroma), an uncommon autosomal dominant disorder, is characterized by the development of multiple osteochondromas, which are nonmalignant cartilage-capped bone tumors growing outwards from long bone metaphyses.

Methods

The present work retrospectively analyzed seven children with HMO who were enrolled for routine clinical diagnosis and treatment, including X-ray examination. Subsequent genetic detection was carried out using whole exome sequencing (WES). In addition, this work applied Sanger sequencing to be the validation approach. Moreover, this work also examined amino acid (AA) evolutionary conservatism under the influence of certain missense variants.

Results

The clinical indications of all seven patients and their fami

SUBMITTER: Ren Z 

PROVIDER: S-EPMC9556467 | biostudies-literature | 2022

REPOSITORIES: biostudies-literature