SCIENTIFIC BACKGROUND

EZH2

Scientific background

Weaver syndrome is a rare autosomal dominant disorder characterized by tall stature, variable intellectual disability, and characteristic facial dysmorphia, is a potential differential diagnosis to Sotos syndrome. Pathogenic variants in the EZH2 gene (enhancer of zeste, Drosophila, homolog 2) have been found to be causative for many Weaver syndrome cases. However, genetic heterogeneity cannot be excluded.

 

References

Lane & Freeth 2019, Chromatin Signaling and Neurological Disorders, Vol 7, pp. 219 / Tatton-Brown et al., Sotos Syndrome. 2004 Dec 17 [Updated 2019 Aug 1]. In: Adam MP, Ardinger HH, Pagon RA, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2021 / Imagawa et al. 2017, Hum Mutat 38:637 / Leventopoulos et al. 2009, Pediatr Neurol 40:357 / Tatton-Brown et al. 2007, Eur J Hum Genet 15:264 / Baujat et al. 2007, Orphanet J Rare Dis 2:36 / Visser et al. 2005, Am J Hum Genet 76:52 / Rio et al. 2003, J Med Genet 40:436 / Kurotaki et al. 2002, Nat Genet 30:365

GENES

EZH2
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