A Novel De Novo Splice Acceptor Variant in BICD2 Is Associated With Spinal Muscular Atrophy

Am J Med Genet A. 2024 Nov 19:e63944. doi: 10.1002/ajmg.a.63944. Online ahead of print.

Authors

Giulia F Del Gobbo¹, Xueqi Wang¹, Stella K MacDonald², Yijing Liang³; Care4Rare Canada Consortium¹; Hugh J McMillan^{1

4}, Gabrielle Lemire¹, Kym M Boycott^{1

2}

Affiliations

¹ Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, Canada.
² Department of Genetics, Children's Hospital of Eastern Ontario, Ottawa, Canada.
³ Centre for Computational Medicine, the Hospital for Sick Children, Toronto, Ontario, Canada.
⁴ Department of Neurology, Children's Hospital of Eastern Ontario, Ottawa, Canada.

PMID: 39559931
DOI: 10.1002/ajmg.a.63944

No abstract available

Keywords: BICD2; RNA sequencing; neuromuscular disorder; spinal muscular atrophy lower extremity dominant 2A.

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