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Ann Neurol. 2020 Apr;87(4):487-496. doi: 10.1002/ana.25704.

The Genotypic and Phenotypic Spectrum of BICD2 Variants in Spinal Muscular Atrophy.

Author information

1
Institute for Genomic Medicine, Nationwide Children's Hospital, Columbus, OH.
2
Department of Pediatrics, Ohio State University, Columbus, OH.
3
Center for Gene Therapy, Nationwide Children's Hospital, Columbus, OH.
4
Department of Neurology, Ohio State University, Columbus, OH.

Abstract

The bicaudal D cargo adaptor 2 (BICD2) gene encodes a conserved cargo adaptor protein required for dynein-mediated transport. Inherited and de novo variants in BICD2 cause SMALED2 (spinal muscular atrophy lower extremity dominant 2), 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. ANN NEUROL 2020;87:487-496.

PMID:
32057122
DOI:
10.1002/ana.25704

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