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Article

An infant with congenital respiratory insufficiency and diaphragmatic paralysis: A novel BICD2 phenotype?

American journal of medical genetics. Part A - 1 Mar 2022

Chin Hui-Lin, Huynh Stephanie, Ashkani Jahanshah, Castaldo Michael, Dixon Katherine, Selby Kathryn, Shen Yaoqing, Wright Marie, Boerkoel Cornelius F, Hendson Glenda, Jones Steven J M

Abstract excerpt

Monoallelic pathogenic variants in BICD2 are associated with autosomal dominant Spinal Muscular Atrophy Lower Extremity Predominant 2A and 2B (SMALED2A, SMALED2B). As part of the cellular vesicular transport, complex BICD2 facilitates the flow of constitutive secretory cargoes from the trans-Golgi network, and its dysfunction results in motor neuron loss. The reported phenotypes among patients with SMALED2A and...

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PMID: 34825470
DOI: 10.1002/ajmg.a.62578

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