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

TL;DR

A new SIAH1 gene variant is found in a Chilean girl with Buratti–Harel syndrome, a rare genetic disorder causing developmental delays and physical abnormalities.

Contribution

The study reports a novel de novo frameshift variant in SIAH1 associated with Buratti–Harel syndrome in a previously unreported patient.

Findings

A 9-year-old Chilean female exhibits Buratti–Harel syndrome features with a new SIAH1 frameshift variant.

The variant is de novo and heterozygous, adding to the limited understanding of BURHAS genetic causes.

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.

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