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

Abstract

<p class="first" id="P2">Heterozygous mutations in Bicaudal D2 Drosophila homolog 2 ( <i>BICD2</i>) 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 patient born to a consanguineous union and who suffered from intellectual disability, speech delay, epilepsy, happy facial expression, truncal obesity with tappering fingers, and joint hypermobility. Whole-exome sequencing analysis revealed a rare, homozygous missense mutation (c.731T&gt;C; p.Leu244Pro) in <i>BICD2</i> gene. This finding presents the first report in the literature for homozygous <i>BICD2</i> mutations and its association with a Cohen-Like syndrome. Patients presenting with Cohen-Like phenotypes should be further interrogated for mutations in <i>BICD2</i>. </p>