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  • Publication : 15 02 2020
  • Catégorie :La recherche médicale et génétique

The genotypic and phenotypic spectrum of BICD2 variants in spinal muscular atrophy.    

The bicaudal D cargo adaptor 2 (BICD2) gene encodes a conserved cargo adapter protein required for dynein-mediated transport. Inherited and de novo variants in BICD2 cause spinal muscular atrophy, lower extremity dominant 2 (SMALED2), and a subset have recently been reported to cause severe, often lethal disease. However, a true genotype-phenotype correlation for BICD2 has not been performed, and cases described to date are scattered among at least 14 publications. In this review, we identify the characteristics of disease-causing variants in BICD2 that distinguish them from benign variation, and perform genotype-phenotype correlations for 99 BICD2 variant carriers from 35 families. This article is protected by copyright. All rights reserved.

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