Autosomal Recessive Cerebellar Ataxia-27 Caused by a Novel Loss-of-Function Variant of Ganglioside-Induced Differentiation Associated Protein 2 in a Spanish Family
Résumé fourni par la source
Background and Objectives: ) gene in homozygosis causing autosomal recessive cerebellar ataxia. Methods: We studied the virtual gene panel of hereditary ataxia with onset in adulthood (version 4.15) of PanelApp by means of whole exome sequencing. The validation of the variant of interest found was performed by Sanger sequencing. A segregation study was performed on family members. Results: 2 gene: c.57_59delinsACCCCAGCT (p.Trp19*). It was also detected in the patient's mother and brother, who were heterozygous, and 4 nephews on the paternal side, who were also carriers of the variant. Discussion: with hereditary cerebellar ataxia.
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Contrôle bibliographique ouvert
DOI retrouvé dans Crossref DOI retrouvé ; titre concordant.
- Titre Crossref
- Autosomal Recessive Cerebellar Ataxia-27 Caused by a Novel Loss-of-Function Variant of Ganglioside-Induced Differentiation Associated Protein 2 in a Spanish Family
- Date Crossref
- 01/06/2025
- Éditeur
- Ovid Technologies (Wolters Kluwer Health)
- Type
- journal-article
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