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

Author

Civit A, Ronce N, Cogné B, Besnard T, Laurenceau D, Hubert C, Moizard MP, Gueguen P, Toutain A, and Vuillaume ML

Subjects
Humans, Male, Female, Phenotype, Pedigree
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., (© 2024 The Author(s). Clinical Genetics published by John Wiley & Sons Ltd.)

Published
2025
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