Whole-exome sequencing identified a novel variant in an Iranian patient affected by pycnodysostosis.

ABSTRACT:

Background

Whole-exome sequencing (WES) has emerged as a successful diagnostic tool in molecular genetics laboratories worldwide. In this study, we aimed to find the potential genetic cause of skeletal disease, a heterogeneous disease, revealing the obvious short stature phenotype. In an Iranian family, we used solo-WES in a suspected patient to decipher the potential genetic cause(s).

Methods

A comprehensive clinical and genotyping examination was applied to suspect the disease of the patient. The solo clinical WES was exploited, and the derived data were filtered according to the standard pipelines. In order to validate the WES finding, the region harboring the candidate variant in the CTSK gene was amplified from genomic DNA and sequenced directly by Sanger sequencing.

SUBMITTER: Razmara E 

PROVIDER: S-EPMC7057126 | biostudies-literature | 2020 Mar

REPOSITORIES: biostudies-literature