The diagnosis of the first-documented intragenic KANSL1 microduplication patient broadens the genetic spectrum of Koolen de Vries syndrome

Affiliations

¹ Department of Genetic and Molecular Medicine-IPER, Institut de Recerca Sant Joan de Déu, Barcelona, Spain.
² U-703 Centre for Biomedical Research on Rare Diseases (CIBER-ER), Instituto de Salud Carlos III, Barcelona, Spain.
³ Department of Rehabilitation, Institut de Recerca Sant Joan de Déu, Barcelona, Spain.
⁴ Department of Radiology, Institut de Recerca Sant Joan de Déu, Barcelona, Spain.
⁵ Movement Disorders Unit, Department of Child Neurology, Institut de Recerca Sant Joan de Déu.
⁶ European Reference Network for Rare Neurological Diseases (ERN-RND), Barcelona, Spain.

Loreto Martorell et al. Clin Genet. 2022 May.

. 2022 May;101(5-6):575-576.

doi: 10.1111/cge.14124. Epub 2022 Feb 22.

¹ Department of Genetic and Molecular Medicine-IPER, Institut de Recerca Sant Joan de Déu, Barcelona, Spain.
² U-703 Centre for Biomedical Research on Rare Diseases (CIBER-ER), Instituto de Salud Carlos III, Barcelona, Spain.
³ Department of Rehabilitation, Institut de Recerca Sant Joan de Déu, Barcelona, Spain.
⁴ Department of Radiology, Institut de Recerca Sant Joan de Déu, Barcelona, Spain.
⁵ Movement Disorders Unit, Department of Child Neurology, Institut de Recerca Sant Joan de Déu.
⁶ European Reference Network for Rare Neurological Diseases (ERN-RND), Barcelona, Spain.

No abstract available

References

1. Koolen DA, Pfundt R, Linda K, 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):652-659. doi:10.1038/ejhg.2015.178
1. Hu T, Tian T, Zhang Z, et al. Prenatal chromosomal microarray analysis in 2466 fetuses with ultrasonographic soft markers: a prospective cohort study. Am J Obstet Gynecol. 2021;224(5):516.e1-516.e16. doi:10.1016/j.ajog.2020.10.039
1. Egloff M, Encha-Razavi F, Garel C, et al. 17q21.31 microdeletion: brain anomalies leading to prenatal diagnosis. Cytogenet Genome Res. 2014;144(3):178-182. doi:10.1159/000369117
1. Bigoni S, Marangi G, Frangella S, et al. Clinical genetics can solve the pitfalls of genome-wide investigations: lesson from mismapping a loss-of-function variant in KANSL1. Genes (Basel). 2020;11(10):1177.