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The Genotypic and Phenotypic Spectrum of BICD2 Variants in Spinal Muscular Atrophy
Author(s) -
Koboldt Daniel C.,
Waldrop Megan A.,
Wilson Richard K.,
Flanigan Kevin M.
Publication year - 2020
Publication title -
annals of neurology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 4.764
H-Index - 296
eISSN - 1531-8249
pISSN - 0364-5134
DOI - 10.1002/ana.25704
Subject(s) - spinal muscular atrophy , phenotype , biology , signal transducing adaptor protein , genotype , gene , genetics , atrophy
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