Novel SIAH1 Frameshift Variant in a Chilean Patient With Buratti-Harel Syndrome.

Abstract

Buratti-Harel syndrome (BURHAS) is a rare genetic condition caused by heterozygous pathogenic variants of the SIAH1 gene, with only five unrelated cases included in a single report in 2019. BURHAS is characterized mainly by neurodevelopmental delay, infantile hypotonia, and dysmorphic features. We report the case of a 9-year-old Chilean female that matches this phenotype, with a heterozygous, de novo frameshift variant of the SIAH1 gene.