Identification of a Rare Branch Point Variant in the SMS Gene in a Large Family With a Severe Form of Snyder-Robinson Syndrome

Antoine Civit; Nathalie Ronce; Benjamin Cogné; Thomas Besnard; David Laurenceau; Catherine Hubert; Marie-Pierre Moizard; Paul Gueguen; Annick Toutain; Marie-Laure Vuillaume

doi:10.1111/cge.14643

Identification of a Rare Branch Point Variant in the SMS Gene in a Large Family With a Severe Form of Snyder-Robinson Syndrome

Clin Genet. 2024 Nov 10. doi: 10.1111/cge.14643. Online ahead of print.

Authors

Antoine Civit¹, Nathalie Ronce¹, Benjamin Cogné^{2

3}, Thomas Besnard^{2

3}, David Laurenceau¹, Catherine Hubert¹, Marie-Pierre Moizard¹, Paul Gueguen^{1

4}, Annick Toutain^{1

4}, Marie-Laure Vuillaume^{1

4}

Affiliations

¹ Service de Génétique, Centre Hospitalier Régional Universitaire de Tours, Tours, France.
² Nantes Université, CHU de Nantes, CNRS, INSERM, l'institut du thorax, Nantes, France.
³ Nantes Université, CHU de Nantes, Service de Génétique médicale, Nantes, France.
⁴ UMR 1253, iBrain, Université de Tours, INSERM, Tours, France.

PMID: 39523020
DOI: 10.1111/cge.14643

Abstract

Identification of the first pathogenic branch point variant in the SMS gene in a large French non-consanguineous family with a phenotype retrospectively consistent with Snyder-Robinson syndrome. RT-PCR analysis followed by RNA-sequencing demonstrated that this variant, lead to the synthesis of a predominant aberrant transcript with complete intron 6 retention.

Keywords: SMS; RNA‐Seq; Snyder–Robinson syndrome; branch point variant.