Intragenic <i>DOK7</i> deletion detected by whole-genome sequencing in congenital myasthenic syndromes.

ABSTRACT:

Objective

To identify the genetic cause in a patient affected by ptosis and exercise-induced muscle weakness and diagnosed with congenital myasthenic syndromes (CMS) using whole-genome sequencing (WGS).

Methods

Candidate gene screening and WGS analysis were performed in the case. Allele-specific PCR was subsequently performed to confirm the copy number variation (CNV) that was suspected from the WGS results.

Results

In addition to the previously reported frameshift mutation c.1124_1127dup, an intragenic 6,261 bp deletion spanning from the 5' untranslated region to intron 2 of the DOK7 gene was identified by WGS in the patient with CMS. The heterozygous deletion was suspected based on reduced coverage on WGS and confirmed by allele-specific PCR. The breakpoints

SUBMITTER: Azuma Y 

PROVIDER: S-EPMC5415388 | biostudies-literature | 2017 Jun

REPOSITORIES: biostudies-literature