Novel frameshift mutation in PURA gene causes severe encephalopathy of unclear cause.

ABSTRACT:

Background

The etiology of many genetic diseases is challenging. This is especially true for developmental disorders of the central nervous system, since several genes can be involved. Many of such pathologies are considered rare diseases, since they affect less than 1 in 2000 people. Due to their low frequency, they present several difficulties for patients, from the delay in the diagnosis to the lack of treatments. Next-generation sequencing techniques have improved the search for diagnosis in several pathologies. Many studies have shown that the use of whole-exome/genome sequencing in rare Mendelian diseases has a diagnostic yield between 30% and 50% depending on the disease.

Methods

Here, we present the case of an undiagnosed 6-year-old boy with severe encephalopathy of

SUBMITTER: Spangenberg L 

PROVIDER: S-EPMC8172205 | biostudies-literature | 2021 May

REPOSITORIES: biostudies-literature