Expanding the phenotype of Wiedemann-Steiner syndrome: Craniovertebral junction anomalies

Giangiobbe, Sara; Caraffi, Stefano Giuseppe; Ivanovski, Ivan; Maini, Ilenia; Pollazzon, Marzia; et al

doi:10.1002/ajmg.a.61859

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Giangiobbe, S., Caraffi, S. G., Ivanovski, I., Maini, I., Pollazzon, M., & et al. (2020). Expanding the phenotype of Wiedemann-Steiner syndrome: Craniovertebral junction anomalies. American Journal of Medical Genetics. Part A, 182(12), 2877–2886. https://doi.org/10.1002/ajmg.a.61859

Abstract

Wiedemann-Steiner syndrome (WDSTS) is a rare autosomal dominant condition caused by heterozygous loss of function variants in the KMT2A (MLL) gene, encoding a lysine N-methyltransferase that mediates a histone methylation pattern specific for epigenetic transcriptional activation. WDSTS is characterized by a distinctive facial phenotype, hypertrichosis, short stature, developmental delay, intellectual disability, congenital malformations, and skeletal anomalies. Recently, a few patients have been reported having abnormal skeletal deve