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DYRK1A pathogenic variants in two patients with syndromic intellectual disability and a review of the literature

Publication ,  Journal Article
Meissner, LE; Macnamara, EF; D'Souza, P; Yang, J; Vezina, G; Ferreira, CR; Zein, WM; Tifft, CJ; Adams, DR; Acosta, MT; Adam, M; Agrawal, PB ...
Published in: Molecular Genetics and Genomic Medicine
December 1, 2020

Background: DYRK1A-Related Intellectual Disability Syndrome is a rare autosomal dominant condition characterized by intellectual disability, speech and language delays, microcephaly, facial dysmorphism, and feeding difficulties. Affected individuals represent simplex cases that result from de novo heterozygous pathogenic variants in DYRK1A (OMIM 614104), or chromosomal structural rearrangements involving the DYRK1A locus. Due to the rarity of DYRK1A-Related Intellectual Disability Syndrome, the spectrum of symptoms associated with this disease has not been completely defined. Methods and results: We present two unrelated cases of DYRK1A-Related Intellectual Disability Syndrome resulting from variants in DYRK1A. Both probands presented to the National Institutes of Health (NIH) with multiple dysmorphic facial features, primary microcephaly, absent or minimal speech, feeding difficulties, and cognitive impairment; features that have been previously reported in individuals with DYRK1A. During NIH evaluation, additional features of enlarged cerebral subarachnoid spaces, retinal vascular tortuosity, and bilateral anomalous large optic discs with increased cup-to-disc ratio were identified in the first proband and multiple ophthalmologic abnormalities and sensorineural hearing loss were identified in the second proband. Conclusion: We recommend that the workup of future of patients include a comprehensive eye exam. Early establishment of physical, occupational, and speech therapy may help in the management of ataxia, hypertonia, and speech impairments common in these patients.

Duke Scholars

Published In

Molecular Genetics and Genomic Medicine

DOI

EISSN

2324-9269

Publication Date

December 1, 2020

Volume

8

Issue

12

Related Subject Headings

  • 3404 Medicinal and biomolecular chemistry
  • 3105 Genetics
  • 1103 Clinical Sciences
  • 0604 Genetics
  • 0304 Medicinal and Biomolecular Chemistry
 

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Meissner, L. E., Macnamara, E. F., D’Souza, P., Yang, J., Vezina, G., Ferreira, C. R., … Glass, I. (2020). DYRK1A pathogenic variants in two patients with syndromic intellectual disability and a review of the literature. Molecular Genetics and Genomic Medicine, 8(12). https://doi.org/10.1002/mgg3.1544
Meissner, L. E., E. F. Macnamara, P. D’Souza, J. Yang, G. Vezina, C. R. Ferreira, W. M. Zein, et al. “DYRK1A pathogenic variants in two patients with syndromic intellectual disability and a review of the literature.” Molecular Genetics and Genomic Medicine 8, no. 12 (December 1, 2020). https://doi.org/10.1002/mgg3.1544.
Meissner LE, Macnamara EF, D’Souza P, Yang J, Vezina G, Ferreira CR, et al. DYRK1A pathogenic variants in two patients with syndromic intellectual disability and a review of the literature. Molecular Genetics and Genomic Medicine. 2020 Dec 1;8(12).
Meissner, L. E., et al. “DYRK1A pathogenic variants in two patients with syndromic intellectual disability and a review of the literature.” Molecular Genetics and Genomic Medicine, vol. 8, no. 12, Dec. 2020. Scopus, doi:10.1002/mgg3.1544.
Meissner LE, Macnamara EF, D’Souza P, Yang J, Vezina G, Ferreira CR, Zein WM, Tifft CJ, Adams DR, Acosta MT, Adam M, Agrawal PB, Alejandro ME, Alvey J, Amendola L, Andrews A, Ashley EA, Azamian MS, Bacino CA, Bademci G, Baker E, Balasubramanyam A, Baldridge D, Bale J, Bamshad M, Barbouth D, Bayrak-Toydemir P, Beck A, Beggs AH, Behrens E, Bejerano G, Bennet J, Berg-Rood B, Bernstein JA, Berry GT, Bican A, Bivona S, Blue E, Bohnsack J, Bonnenmann C, Bonner D, Botto L, Boyd B, Briere LC, Brokamp E, Brown G, Burke EA, Burrage LC, Butte MJ, Byers P, Byrd WE, Carey J, Carrasquillo O, Chang TCP, Chanprasert S, Chao HT, Clark GD, Coakley TR, Cobban LA, Cogan JD, Coggins M, Cole FS, Colley HA, Cooper CM, Cope H, Craigen WJ, Crouse AB, Cunningham M, Dai H, Dasari S, Davids M, Dayal JG, Deardorff M, Dell’Angelica EC, Dhar SU, Dipple K, Doherty D, Dorrani N, Douine ED, Draper DD, Duncan L, Earl D, Eckstein DJ, Emrick LT, Eng CM, Esteves C, Estwick T, Falk M, Fernandez L, Ferreira C, Fieg EL, Findley LC, Fisher PG, Fogel BL, Forghani I, Fresard L, Gahl WA, Glass I. DYRK1A pathogenic variants in two patients with syndromic intellectual disability and a review of the literature. Molecular Genetics and Genomic Medicine. 2020 Dec 1;8(12).
Journal cover image

Published In

Molecular Genetics and Genomic Medicine

DOI

EISSN

2324-9269

Publication Date

December 1, 2020

Volume

8

Issue

12

Related Subject Headings

  • 3404 Medicinal and biomolecular chemistry
  • 3105 Genetics
  • 1103 Clinical Sciences
  • 0604 Genetics
  • 0304 Medicinal and Biomolecular Chemistry