WEAVER SYNDROME

EZH2

Description

Scientific background

A potential differential diagnosis to Sotos syndrome might be Weaver syndrome (WVS; OMIM 277590), a rare autosomal dominant disorder characterized by tall stature, variable intelligence impairment, and characteristic facial dysmorphia. Pathogenic variants in the EZH2 gene (enhancer of zeste, Drosophila, homolog 2; OMIM 601573) have been found to be causative for a large number of 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., Gene Reviews / 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 Journal of rare diseases 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

ASSOCIATED TESTS

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