Mosaic mutations in early-onset genetic diseases.

ABSTRACT:

Purpose

An emerging approach in medical genetics is to identify de novo mutations in patients with severe early-onset genetic disease that are absent in population controls and in the patient's parents. This approach, however, frequently misses post-zygotic "mosaic" mutations that are present in only a portion of the healthy parents' cells and are transmitted to offspring.

Methods

We constructed a mosaic transmission screen for variants that have an ~50% alternative allele ratio in the proband but are significantly less than 50% in the transmitting parent. We applied it to two family-based genetic disease cohorts consisting of 9 cases of sudden unexplained death in childhood (SUDC) and 338 previously published cases of epileptic encephalopathy.

Results

The screen iden

SUBMITTER: Halvorsen M 

PROVIDER: S-EPMC4929028 | biostudies-literature | 2016 Jul

REPOSITORIES: biostudies-literature