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

Journal of Human Genetics volume 67, pages 553–556 (2022)Cite this article

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Abstract

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 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>C; p.Leu244Pro) in BICD2 gene. This finding presents the first report in the literature for homozygous BICD2 mutations and its association with a Cohen-Like syndrome. Patients presenting with Cohen-Like phenotypes should be further interrogated for mutations in BICD2.

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Acknowledgements

The authors thank the reported family for participating in this study. This work was supported by the Yale Center for Mendelian Genomics. The Yale Center for Mendelian Genomics (UM1HG006504) is funded by the National Human Genome Research Institute. The GSP Coordinating Center (U24HG008956) contributed to cross-program scientific initiatives and provided logistical and general study coordination. The content is solely the responsibility of the authors and does not necessarily represent the official views of the National Institutes of Health.

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Authors and Affiliations

  1. Departments of Neurosurgery, Neurobiology and Genetics, Yale School of Medicine, New Haven, CT, 06520-8082, USA

    Ahmet Okay Caglayan, Kaya Bilguvar & Murat Gunel

  2. Department of Pediatrics, Division of Pediatric Genetics, Cerrahpasa Medical School, Istanbul University-Cerrahpasa, Istanbul, Turkey

    Beyhan Tuysuz, Ece Gül & Dilek Uludag Alkaya

  3. Department of Neurology, Cerrahpasa Medical School, Istanbul University-Cerrahpasa, Istanbul, Turkey

    Cengiz Yalcinkaya

  4. Department of Neurosciences, Howard Hughes Medical Institute, University of California, San Diego, La Jolla, CA, 92093, USA

    Joseph G. Gleeson

  5. Rady Children’s Institute for Genomic Medicine, San Diego, CA, 92025, USA

    Joseph G. Gleeson

  6. Yale Center for Genome Analysis, Yale School of Medicine, New Haven, CT, 06510, USA

    Kaya Bilguvar

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  1. Ahmet Okay Caglayan
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  2. Beyhan Tuysuz
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Correspondence to Ahmet Okay Caglayan or Beyhan Tuysuz.

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Caglayan, A.O., Tuysuz, B., Gül, E. et al. Biallelic BICD2 variant is a novel candidate for Cohen-like syndrome. J Hum Genet 67, 553–556 (2022). https://doi.org/10.1038/s10038-022-01032-1

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