Correspondence to Rossetti et al.'s review of the phenotypic spectrum associated with haploinsufficiency of MYRF

摘要

We read with interest the article by Rossetti et al. reviewing the phenotypic spectrum associated with haploinsufficiency of MYRF (Rossetti et al., 2019). The authors identified three novel mutations in three patients with cardiac-urogenital-diaphragm-lung (CUDL) disorders. They further reviewed the phenotypic spectrum involving CUDL disorders based on 16 reported patients with mutations in MYRF. However, three recently published papers (Garnai et al., 2019; Guo et al., 2019; Xiao et al., 2019) independently identified that novel truncation mutations in MYRF are responsible for a spectrum of disorders related to autosomal dominant high hyperopia (adHH) (Nowilaty et al., 2013). These findings are of great interest because primary angle closure glaucoma (PACG), one of the most common forms of glaucoma in East Asians (Sun et al., 2017), is frequently accompanied with MYRF-associated high hyperopia (Garnai et al., 2019; Othman et al., 1998; Xiao et al., 2019). PACG or occludable anterior chamber angles, present in 12 of the 22 individuals with high hyperopia in one family (Othman et al., 1998), were caused by a MYRF mutation. PACG was also present in two families with high hyperopia caused by MYRF mutations (Xiao et al., 2019).