Identification of pathogenic mutations in 6 Chinese families with multiple exostoses by whole-exome sequencing and multiplex ligation-dependent probe amplification: Case series.

ABSTRACT:

Rationale

Hereditary multiple exostoses (HMEs) is an autosomal dominant skeletal disorder.

Patient concerns

Six probands of the 6 unrelated Han Chinese families were identified as having HME. These patients had exostoses at multiple sites and significantly affected joints malformation and movement.

Diagnoses

Hereditary multiple exostoses.

Interventions

To detect the genetic mechanism of HME in 6 unrelated Chinese families, whole-exome sequencing (WES) and multiplex ligation-dependent probe amplification (MLPA) were used after genomic DNA was isolated from peripheral blood leucocytes. Point mutations identified by these methods were verified by Sanger sequencing after PCR amplification.

Outcomes

Six mutations in the EXT1 and EXT2 genes were identified, in

SUBMITTER: Long X 

PROVIDER: S-EPMC6531242 | biostudies-literature | 2019 May

REPOSITORIES: biostudies-literature