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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| Published in | Clinical genetics Vol. 107; no. 2; pp. 231 - 233 |
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| Main Authors | , , , , , , , , , |
| Format | Journal Article |
| Language | English |
| Published |
Oxford, UK
Blackwell Publishing Ltd
01.02.2025
Wiley |
| Subjects | |
| Online Access | Get full text |
| ISSN | 0009-9163 1399-0004 1399-0004 |
| DOI | 10.1111/cge.14643 |
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| 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. |
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| AbstractList | 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.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. 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. 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. |
| Author | Civit, Antoine Toutain, Annick Hubert, Catherine Moizard, Marie‐Pierre Vuillaume, Marie‐Laure Besnard, Thomas Cogné, Benjamin Gueguen, Paul Ronce, Nathalie Laurenceau, David |
| AuthorAffiliation | 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 |
| AuthorAffiliation_xml | – name: 4 UMR 1253, iBrain, Université de Tours, INSERM Tours France – name: 1 Service de Génétique, Centre Hospitalier Régional Universitaire de Tours Tours France – name: 3 Nantes Université, CHU de Nantes, Service de Génétique médicale Nantes France – name: 2 Nantes Université, CHU de Nantes, CNRS, INSERM, l'institut du thorax Nantes France |
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| Cites_doi | 10.1002/(sici)1096‐8628(19990312)83:2<132::aid‐ajmg9>3.0.co;2‐y 10.1038/sj.ejhg.5201072 10.1016/j.rare.2023.100017 10.1073/pnas.2211194119 10.3390/ijms17010077 |
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| Keywords | branch point variant SMS Snyder–Robinson syndrome RNA‐Seq Snyder-Robinson syndrome RNA-Seq |
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| Snippet | Identification of the first pathogenic branch point variant in the SMS gene in a large French non‐consanguineous family with a phenotype retrospectively... Identification of the first pathogenic branch point variant in the SMS gene in a large French non-consanguineous family with a phenotype retrospectively... Identification of the first pathogenic branch point variant in the SMS gene in a large French non‐consanguineous family with a phenotype retrospectively... |
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| SubjectTerms | 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 |
| Title | Identification of a Rare Branch Point Variant in the SMS Gene in a Large Family With a Severe Form of Snyder–Robinson Syndrome |
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