Double homozygosity in CEP57 and DYNC2H1 genes detected by WES: Composite or expanded phenotype?

ABSTRACT:

Background

In the last few years trio-whole exome sequencing (WES) analysis has demonstrated its potential in obtaining genetic diagnoses even in nonspecific clinical pictures and in atypical presentations of known diseases. Moreover WES allows the detection of variants in multiple genes causing different genetic conditions in a single patient, in about 5% of cases. The resulting phenotype may be clinically discerned as variability in the expression of a known phenotype, or as a new unreported syndromic condition.

Methods

Trio-WES was performed on a 4-month-old baby with a complex clinical presentation characterized by skeletal anomalies, congenital heart malformation, congenital hypothyroidism, generalized venous and arterial hypoplasia, and recurrent infections.

Results

SUBMITTER: Pezzani L 

PROVIDER: S-EPMC7057129 | biostudies-literature | 2020 Mar

REPOSITORIES: biostudies-literature