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Article

Biallelic BICD2 variant is a novel candidate for Cohen-like syndrome.

Journal of human genetics - 1 Sept 2022

Caglayan Ahmet Okay, Tuysuz Beyhan, Gül Ece, Alkaya Dilek Uludag, Yalcinkaya Cengiz, Gleeson Joseph G, Bilguvar Kaya, Gunel Murat

Abstract excerpt

Heterozygous mutations in Bicaudal D2 Drosophila homolog 2 (BICD2) gene, encodes a vesicle transport protein involved in dynein-mediated movement along microtubules, are responsible for an exceedingly rare autosomal dominant spinal muscular atrophy type 2A which starts in the childhood and predominantly effects lower extremities. Recently, a more severe form, type 2B, has also been described. Here, we present a...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 35338243
DOI: 10.1038/s10038-022-01032-1
PMCID: PMC9420744

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