Genotype-phenotype analysis of 523 patients by genetics evaluation and clinical exome sequencing.

ABSTRACT:

Background

As clinical exome sequencing (CES) becomes more common, understanding which patients are most likely to benefit and in what manner is critical for the general pediatrics community to appreciate.

Methods

Five hundred and twenty-three patients referred to the Pediatric Genetics clinic at Michigan Medicine were systematically phenotyped by the presence or absence of abnormalities for 13 body/organ systems by a Clinical Genetics team. All patients then underwent CES.

Results

Overall, 30% of patients who underwent CES had an identified pathogenic mutation. The most common phenotypes were developmental delay (83%), neuromuscular system abnormalities (81%), and multiple congenital anomalies (42%). In all, 67% of patients had a variant of uncertain significance (VU

SUBMITTER: Ziats MN 

PROVIDER: S-EPMC7082194 | biostudies-literature | 2020 Mar

REPOSITORIES: biostudies-literature