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Acharya A, Raza SI, Anwar MZ, et al. Wolfram-like syndrome with bicuspid aortic valve due to a homozygous missense variant in CDK13. J Hum Genet. 2021;66(10):1009-1018doi: 10.1038/s10038-021-00922-0.
Acharya, A., Raza, S. I., Anwar, M. Z., Bharadwaj, T., Liaqat, K., Khokhar, M. A. S., Everard, J. L., Nasir, A., Nickerson, D. A., Bamshad, M. J., Ansar, M., Schrauwen, I., Ahmad, W., & Leal, S. M. (2021). Wolfram-like syndrome with bicuspid aortic valve due to a homozygous missense variant in CDK13. Journal of human genetics, 66(10), 1009-1018. https://doi.org/10.1038/s10038-021-00922-0
Acharya, Anushree, et al. "Wolfram-like syndrome with bicuspid aortic valve due to a homozygous missense variant in CDK13." Journal of human genetics vol. 66,10 (2021): 1009-1018. doi: https://doi.org/10.1038/s10038-021-00922-0
Acharya A, Raza SI, Anwar MZ, Bharadwaj T, Liaqat K, Khokhar MAS, Everard JL, Nasir A, Nickerson DA, Bamshad MJ, Ansar M, Schrauwen I, Ahmad W, Leal SM. Wolfram-like syndrome with bicuspid aortic valve due to a homozygous missense variant in CDK13. J Hum Genet. 2021 Oct;66(10):1009-1018. doi: 10.1038/s10038-021-00922-0. Epub 2021 Apr 21. PMID: 33879837; PMCID: PMC8472924.
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J Hum Genet. 2021 Oct;66(10):1009-1018. doi: 10.1038/s10038-021-00922-0. Epub 2021 Apr 21.

Wolfram-like syndrome with bicuspid aortic valve due to a homozygous missense variant in CDK13.

Journal of human genetics

Anushree Acharya, Syed Irfan Raza, Muhammad Zeeshan Anwar, Thashi Bharadwaj, Khurram Liaqat, Muhammad Akram Shahzad Khokhar, Jenna L Everard, Abdul Nasir, Deborah A Nickerson, Michael J Bamshad, Muhammad Ansar, Isabelle Schrauwen, Wasim Ahmad, Suzanne M Leal

Affiliations

  1. Center for Statistical Genetics, Gertrude H. Sergievsky Center, and the Department of Neurology, Columbia University Medical Center, New York, NY, USA.
  2. Department of Biochemistry, Faculty of Biological Sciences, Quaid-i-Azam University, Islamabad, Pakistan.
  3. Department of Biochemistry, HBS Medical and Dental College, Islamabad, Pakistan.
  4. Department of Biochemistry, CMH Kharian Medical College, Punjab, Pakistan.
  5. Major Shabbir Sharif Shaheed Hospital, THQ Level, Kunjah, Gujrat, Punjab, Pakistan.
  6. Synthetic Protein Engineering Lab (SPEL), Department of Molecular Science and Technology, Ajou University, Suwon, South Korea.
  7. Department of Genome Sciences, University of Washington, Seattle, WA, USA.
  8. Department of Pediatrics, University of Washington, Seattle, WA, USA.
  9. Center for Statistical Genetics, Gertrude H. Sergievsky Center, and the Department of Neurology, Columbia University Medical Center, New York, NY, USA. [email protected].
  10. Taub Institute for Alzheimer's Disease and The Aging Brain, Columbia University Medical Center, New York, NY, USA. [email protected].

PMID: 33879837 PMCID: PMC8472924 DOI: 10.1038/s10038-021-00922-0

Abstract

BACKGROUND: Wolfram syndrome (WFS) is characterized by deafness, diabetes mellitus, and diabetes insipidus along with optic atrophy. WFS has an autosomal recessive mode of inheritance and is due to variants in WFS1 and CISD2.

METHODS: We evaluated the underlying molecular etiology of three affected members of a consanguineous family with hearing impairment, bicuspid aortic valve, diabetes mellitus and insipidus, clinodactyly, and gastrointestinal tract abnormalities via exome sequencing approach. We correlated clinical and imaging data with the genetic findings and their associated phenotypes.

RESULTS: We identified a homozygous missense variant p.(Asn1097Lys) in CDK13, a gene previously associated with autosomal dominant congenital heart defects, dysmorphic facial features, clinodactyly, gastrointestinal tract abnormalities, intellectual developmental disorder, and seizures with variable phenotypic features.

CONCLUSION: We report a homozygous variant in CDK13 and suggest that this gene causes an autosomal recessive disorder with hearing impairment, bicuspid aortic valve, diabetes mellitus and insipidus, clinodactyly, and gastrointestinal tract abnormalities.

© 2021. The Author(s).

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