A genotype-phenotype study of hereditary multiple exostoses in forty-six Chinese patients.

ABSTRACT:

Background

Hereditary multiple exostoses (HME) is a rare autosomal dominant skeletal disorder that can cause a variety of clinical manifestations. We aimed to evaluate the general clinical phenotypic severity of HME by using a scoring system and correlate the genotypes with different clinical phenotypes in Chinese patients.

Methods

Forty-six patients from different families were prospectively enrolled. The mutations were identified by direct sequencing of PCR-amplified genomic DNA or by multiplex ligation-dependent probe amplification (MLPA). Patients' demographic data, height, age of onset, number of anatomical sites, forearm deformity, and lower extremity alignment were analysed according to genotype and gender. A scoring system was used to assess the severity of the clini

SUBMITTER: Li Y 

PROVIDER: S-EPMC5681804 | biostudies-literature | 2017 Nov

REPOSITORIES: biostudies-literature