Phenotypic expansion illuminates multilocus pathogenic variation.

ABSTRACT:

Purpose

Multilocus variation-pathogenic variants in two or more disease genes-can potentially explain the underlying genetic basis for apparent phenotypic expansion in cases for which the observed clinical features extend beyond those reported in association with a "known" disease gene.

Methods

Analyses focused on 106 patients, 19 for whom apparent phenotypic expansion was previously attributed to variation at known disease genes. We performed a retrospective computational reanalysis of whole-exome sequencing data using stringent Variant Call File filtering criteria to determine whether molecular diagnoses involving additional disease loci might explain the observed expanded phenotypes.

Results

Multilocus variation was identified in 31.6% (6/19) of families with pheno

SUBMITTER: Karaca E 

PROVIDER: S-EPMC6450542 | biostudies-literature | 2018 Dec

REPOSITORIES: biostudies-literature