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

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 pre...

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Bibliographic Details
Published in	Clinical genetics Vol. 107; no. 2; pp. 231 - 233
Main Authors	Civit, Antoine, Ronce, Nathalie, Cogné, Benjamin, Besnard, Thomas, Laurenceau, David, Hubert, Catherine, Moizard, Marie‐Pierre, Gueguen, Paul, Toutain, Annick, Vuillaume, Marie‐Laure
Format	Journal Article
Language	English
Published	Oxford, UK Blackwell Publishing Ltd 01.02.2025 Wiley
Subjects	branch point variant Female Genetics Human genetics Human health and pathology Humans Life Sciences Male Neurons and Cognition Pedigree Phenotype Phenotypes Research Letter RNA‐Seq SMS Snyder–Robinson syndrome Transcription X-Linked Intellectual Disability branch point variant SMS Snyder–Robinson syndrome RNA‐Seq Snyder-Robinson syndrome RNA-Seq
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ISSN	0009-9163 1399-0004 1399-0004
DOI	10.1111/cge.14643

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Summary:	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.
Bibliography:	The first two authors contributed equally to this article. ObjectType-Article-1 SourceType-Scholarly Journals-1 ObjectType-Feature-2 content type line 14 content type line 23
ISSN:	0009-9163 1399-0004 1399-0004
DOI:	10.1111/cge.14643