Novel variant in the KAT6B gene associated with Say Barber Biesecker Young Simpson

Affiliations

¹ National Center of Medical Genetics, National Administration of Laboratories and Institutes of Health, Ministry of Health, Ciudad Autónomade Buenos Aires, Argentina.

Stefania A Miller et al. Clin Dysmorphol. 2023.

. 2023 Oct 1;32(4):175-179.

doi: 10.1097/MCD.0000000000000469. Epub 2023 Aug 3.

¹ National Center of Medical Genetics, National Administration of Laboratories and Institutes of Health, Ministry of Health, Ciudad Autónomade Buenos Aires, Argentina.

No abstract available

References

1. Brea-Fernández A, Dacruz D, Eirís J, Barros F, Carracedo A (2018). Novel truncating variants expand the phenotypic spectrum of KAT6B-related disorders. Am J Med Genet Part A 2018:1–5. doi: https://doi.org/10.1002/ajmg.a.60689 . - DOI
1. Campeau PM, Lu JT, Dawson BC, Fokkema IFAC, Robertson SP, Gibbs RA, et al. (2012). The KAT6B-related disorders genitopatellar syndrome and Ohdo/SBBYS syndrome have distinct clinical features reflecting distinct molecular mechanisms. Hum Mutat 33:1520–1525.
1. Clayton-Smith J, O’Sullivan J, Daly S, Bhaskar S, Day R, Anderson B, et al. (2011). Whole-exome-sequencing identifies mutations in histone acetyltransferase gene KAT6B in individuals with the Say-Barber-Biesecker variant of Ohdo syndrome. Am J Hum Genet 89:675–681.
1. Gannon T, Perveen R, Schlecht H, Ramsden S, Anderson B, Kerr B, et al.; DDD study (2015). Further delineation of the KAT6B molecular and phenotypic spectrum. Eur J Hum Genet 23:1165–1170.
1. Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, et al.; ACMG Laboratory Quality Assurance Committee (2015). Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. Genet Med 17:405–424.