RNF135 mutations are not present in patients with Sotos syndrome-like features.

摘要

Sotos syndrome (OMIM 117550) is characterized by overgrowth (height and/or OFC > +2.0 SD), facial dysmorphism, and learning disability [Tatton-Brown et al., 2005]. The craniofacial features include dolichocephaly, a broad forehead with a receding hairline, a pointed chin, and downslanting palpebral fissures. Sotos syndrome is caused by haploinsufficiency of NSD1 and NSD1 mutations are found in 60-90% of the patients [Visser and Matsumoto, 2008]. Although the detection rate is high in typically affected patients, it is lower (36%) in atypical patients [de Boer et al., 2004]. Therefore, there are a considerable number of patients with Sotos syndrome-like features in whom no NSD1 abnormalities are found.