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Case Report

A case of KAT6A syndrome with a newly discovered mutation in the KAT6A gene, mainly manifested as bone marrow failure syndrome

ORCID Icon, , , , ORCID Icon &
Article: 2182159 | Received 28 Aug 2022, Accepted 12 Feb 2023, Published online: 07 Mar 2023

References

  • Zhou C, Liu W, Duan Y. MOZ/KAT6A: a promising target for acute myeloid leukemia therapy. Future Sci. 2020;12(9):759–761.
  • Yang X-J. MOZ and MORF acetyltransferases: Molecular interaction, animal development and human disease. Biochim Biophys Acta (BBA)-Mol Cell Res. 2015;1853(8):1818–1826.
  • Millan F, Cho MT, Retterer K, et al. Whole exome sequencing reveals de novo pathogenic variants in KAT6A as a cause of a neurodevelopmental disorder. Am J Med Genet Part A. 2016;170(7):1791–1798.
  • Urreizti R, Lopez-Martin E, Martinez-Monseny A, et al. The challenges of living with and managing epidermolysis bullosa: insights from patients and caregivers. Orphanet J Rare Dis. 2020;15(1):1–14.
  • A. Gauthier-Vasserot, C. Thauvin-Robinet, A.L. Bruel, Y. Duffourd, J. St-Onge, T. Jouan, J.B. Rivière, D. Heron, J. Donadieu, C. Bellanné-Chantelot, Application of whole-exome sequencing to unravel the molecular basis of undiagnosed syndromic congenital neutropenia with intellectual disability, Am J Med Genet Part A. 2017;173(1:62–71.
  • Kennedy J, Goudie D, Blair E, et al. KAT6A syndrome: genotype–phenotype correlation in 76 patients with pathogenic KAT6A variants. Genet Med. 2019;21(4):850–860.
  • Smith C, Harris J. Sleep, behavior, and adaptive function in KAT6A syndrome. Brain Sci. 2021;11(8):966.
  • Li Q, Wang K. InterVar: clinical interpretation of genetic variants by the 2015 ACMG-AMP guidelines. Am J Human Genet. 2017;100(2):267–280.
  • Teo JT, Klaassen R, Fernandez CV, et al. Clinical and genetic analysis of unclassifiable inherited bone marrow failure syndromes. Pediatrics. 2008;122(1):e139–e148.
  • Sheikh BN, Yang Y, Schreuder J, et al. MOZ (KAT6A) is essential for the maintenance of classically defined adult hematopoietic stem cells. Blood. J Am Soc Hematol. 2016;128(19):2307–2318.
  • Xie W, Hu S, Xu J, et al. Acute myeloid leukemia with t(8;16)(p11.2;p13.3)/KAT6A-CREBBP in adults; 16)(p11. 2; p13. 3)/KAT6A-CREBBP in Adults. Ann Hematol. 2019;98(5):1149–1157.
  • Tham E, Lindstrand A, Santani A, et al. Dominant mutations in KAT6A cause intellectual disability with recognizable syndromic features. Am J Human Genet. 2015;96(3):507–513.
  • Champagne N, Bertos NR, Pelletier N, et al. Identification of a human histone acetyltransferase related to monocytic leukemia zinc finger protein. J Biol Chem. 1999;274(40):28528–28536.
  • Pelletier N, Champagne N, Stifani S, et al. MOZ and MORF histone acetyltransferases interact with the Runt-domain transcription factor Runx2. Oncogene. 2002;21(17):2729–2740.
  • Trinh J, Hüning I, Yüksel Z, et al. A KAT6A variant in a family with autosomal dominantly inherited microcephaly and developmental delay. J Hum Genet. 2018;63(9):997–1001.
  • Kelley RI. KAT6A syndrome: deficiency of a histone acetyltransferase as the cause of mild to severe mitochondrial disease. Am J Med Genet Part A. 2019;179(4):729–730.
  • Arboleda VA, Lee H, Dorrani N, et al. De novo nonsense mutations in KAT6A, a lysine acetyl-transferase gene, cause a syndrome including microcephaly and global developmental delay. Am J Human Genet. 2015;96(3):498–506.