To the Editor We read with interest the article titled “Mutation in TMEM98 in a Large White Kindred With Autosomal Dominant Nanophthalmos Linked to 17p12-q12” by Awadalla et al.1 The authors described a novel variant (c.577G>C, p.A193P) in TMEM98 that is associated with autosomal dominant nanophthalmos in a large family.
Based on exome sequencing of approximately 1200 samples from Chinese individuals with various forms of genetic eye diseases in our laboratory (in a study approved by the institutional review board of the Zhongshan Ophthalmic Center, Guangzhou, China), 4 novel heterozygous variations in TMEM98 were detected and then confirmed using Sanger sequencing, including c.2T>C (p.M1?), c.56C>T (p.S19L), c.149T>C (p.I50T), and c.398A>C (p.K133T) (Figure and Table 1). The first 3 variants were identified in patients with high myopia, and the last was found in a patient with cone-rod dystrophy. None of these patients had signs of nanophthalmos. None of these 4 variations was detected in 576 alleles from 288 unrelated healthy individuals.
Sun W, Zhang Q. Does the Association Between TMEM98 and Nanophthalmos Require Further Confirmation?. JAMA Ophthalmol. 2015;133(3):358-359. doi:10.1001/jamaophthalmol.2014.4915