{Reference Type}: Journal Article
{Title}: Expanding the Phenotypic and Genotypic Spectrum of Weaver Syndrome: A Missense Variant of the EZH2 Gene.
{Author}: Kendir-Demirkol Y;Yeter B;Jenny LA;
{Journal}: Mol Syndromol
{Volume}: 15
{Issue}: 2
{Year}: 2024 Mar
{Factor}: 1.494
{DOI}: 10.1159/000533733
{Abstract}: <B>UNASSIGNED: </B>Weaver syndrome (WS) is a rare autosomal dominant disorder characterized by distinctive facial features, pre- and post-natal overgrowth, macrocephaly, and variable developmental delay. The characteristic facial features are ocular hypertelorism, a broad forehead, almond-shaped palpebral fissures and, in early childhood, large, fleshy ears, a pointed "stuck-on" chin with horizontal skin creases, and retrognathia. Heterozygous pathogenic/likely pathogenic variants in the enhancer of zeste homolog 2 (EZH2) gene are responsible for WS.<BR><B>UNASSIGNED: </B>Here, we report a male patient with a heterozygous likely pathogenic variant in EZH2 gene who has tall stature, distinctive facial features, mild development delay, hypoxic-ischemic encephalopathy with a MRI finding of periventricular leukomalacia, gingival hypertrophy, and early onset high hypermetropia.<BR><B>UNASSIGNED: </B>This case demonstrates the importance of reporting detailed molecular and clinical findings in patients to expand the genotypic and phenotypic findings of this rare syndrome.