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Comment & Response |

Does the Association Between TMEM98 and Nanophthalmos Require Further Confirmation?

Wenmin Sun, MD, PhD1; Qingjiong Zhang, MD, PhD1
[+] Author Affiliations
1State Key Laboratory of Ophthalmology, Zhongshan Ophthalmic Center, Sun Yat-sen University, Guangzhou, China
JAMA Ophthalmol. 2015;133(3):358-359. doi:10.1001/jamaophthalmol.2014.4915.
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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.

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Sequence Chromatography

Pedigrees are shown to the left (+ indicates wild-type allele; M, mutant allele; arrows, probands; squares, males; circles, females; and blackened symbols, affected individuals), sequences with variations are shown in the middle, and sequences from healthy controls are shown to the right. The variations are described under each sequence.

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March 1, 2015
Mona S. Awadalla, MBBS, PhD; Kathryn P. Burdon, PhD; Jamie E. Craig, MBBS, DPhil, FRANZCO
1Department of Ophthalmology, Flinders University, Adelaide, South Australia, Australia
2Menzies Research Institute Tasmania, University of Tasmania, Hobart, Tasmania, Australia
JAMA Ophthalmol. 2015;133(3):359-360. doi:10.1001/jamaophthalmol.2014.4919.
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