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Ophthalmic Genetics Volume 45, 2024 - Issue 2
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Case Reports

Uncommon fundus presentation of Koolen-De Vries Syndrome in a young boy

Hamad Alomairaha Al Bahar Eye Center, Ibn Sina Hospital, KuwaitCorrespondence[email protected]
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,
Abdullah Alia Al Bahar Eye Center, Ibn Sina Hospital, KuwaitView further author information
,
Rabeah Altemaimib Human Genetics Unit, Department of Pathology, Faculty of Medicine, Kuwait University, KuwaitView further author information
&
Talal Alabduljalilc Department of Surgery, Faculty of Medicine, Kuwait University, KuwaitView further author information
Pages 164-166 | Received 19 Oct 2022, Accepted 12 Jul 2023, Published online: 02 Aug 2023

References

  • Koolen DA, Vissers LE, Pfundt R, de Leeuw N, Knight SJ, Regan R, Kooy RF, Reyniers E, Romano C, Fichera M, et al. A new chromosome 17q21.31 microdeletion syndrome associated with a common inversion polymorphism. Nat Genet. 2006;38(9):999–1001. doi:10.1038/ng1853.
  • Koolen DA, Sharp AJ, Hurst JA, Firth HV, Knight SJ, Goldenberg A, Saugier-Veber P, Pfundt R, Vissers LELM, Destree A, et al. Clinical and molecular delineation of the 17q21.31 microdeletion syndrome. J Med Genet. 2008;45(11):710–20. doi:10.1136/jmg.2008.058701.
  • Tan TY, Aftimos S, Worgan L, Susman R, Wilson M, Ghedia S, Kirk EP, Love D, Ronan A, Darmanian A, et al. Phenotypic expansion and further characterization of the 17q21.31 microdeletion syndrome. J Med Genet. 2009;46(7):480–9. doi:10.1136/jmg.2008.065391.
  • Zollino M, Orteschi D, Murdolo M, Lattante S, Battaglia D, Stefanini C, Mercuri E, Chiurazzi P, Neri G, Marangi G, et al. Mutations in KANSL1 cause the 17q21.31 microdeletion syndrome phenotype. Nat Genet. 2012;44(6):636–8. doi:10.1038/ng.2257.
  • Kaminsky EB, Kaul V, Paschall J, Church DM, Bunke B, Kunig D, Moreno-De-Luca D, Moreno-De-Luca A, Mulle JG, Warren ST, et al. An evidence-based approach to establish the functional and clinical significance of copy number variants in intellectual and developmental disabilities. Genet Med. 2011;13(9):777–84. doi:10.1097/GIM.0b013e31822c79f9.
  • Sheikh BN, Guhathakurta S, Akhtar A. The non-specific lethal (NSL) complex is at the crossroads of transcriptional control and cellular homeostasis. EMBO Rep. 2019;20(7):e47630. doi:10.15252/embr.201847630.
  • Koolen DA, Pfundt R, Linda K, Beunders G, Veenstra-Knol HE, Conta JH, Fortuna AM, Gillessen-Kaesbach G, Dugan S, Halbach S, et al. The Koolen-De Vries syndrome: a phenotypic comparison of patients with a 17q21.31 microdeletion versus a KANSL1 sequence variant. Eur J Hum Genet. 2016;24(5):652–9. doi:10.1038/ejhg.2015.178.
  • Zollino M, Marangi G, Ponzi E, Orteschi D, Ricciardi S, Lattante S, Murdolo M, Battaglia D, Contaldo I, Mercuri E, et al. Intragenic KANSL1 mutations and chromosome 17q21.31 deletions: broadening the clinical spectrum and genotype–phenotype correlations in a large cohort of patients. J Med Genet. 2015;52(12):804–14. doi:10.1136/jmedgenet-2015-103184.
  • Koolen DA, Kramer JM, Neveling K, Nillesen WM, Moore-Barton HL, Elmslie FV, Toutain A, Amiel J, Malan V, Tsai AC-H, et al. Mutations in the chromatin modifier gene KANSL1 cause the 17q21.31 microdeletion syndrome. Nat Genet. 2012;44(6):639–41. doi:10.1038/ng.2262.
  • Prat D, Katowitz WR, Strong A, Katowitz JA. Ocular manifestations and surgical interventions in pediatric patients with Koolen-de-Vries syndrome. Ophthalmic Genet. 2021;42(2):186–8. doi:10.1080/13816810.2020.1868012.

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