Novel <i>SIAH1</i> Frameshift Variant in a Chilean Patient With Buratti–Harel Syndrome
Buratti-Harel syndrome (BURHAS) is a rare genetic condition caused by heterozygous pathogenic variants of the <i>SIAH1</i> 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, <i>de novo</i> frameshift variant of the <i>SIAH1</i> gene.
Authors
- Nicole Nakousi‐Capurro (ORCID: https://orcid.org/0000-0001-6854-095X)
- Catalina Nakousi M (ORCID: https://orcid.org/0009-0006-7406-2249)
- Gabriela Perez C
Institutions
- Hospital Carlos Van Buren (CL)
- Finis Terrae University (CL)
Publication Details
- Journal
- Case Reports in Genetics
- Published
- 2025-01-01
- DOI
- https://doi.org/10.1155/crig/8822406
- Primary Topic
- Hedgehog Signaling Pathway Studies
- Type
- article
- Field-Weighted Citation Impact
- 0.00