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Gene & Protein in Disease A novel USH2A gene mutation in retinitis pigmentosa

of the USH2A gene, leading to the replacement of isoleucine Consent for publication
to phenylalanine at position 51 of the corresponding
peptide. SIFT, PolyPhen2, CADD, and REVEL tools The subjects had given written consent for the case report
predicted that this mutation is benign. In addition, to be published.
MutationTaster predicted that c.151A>T (p.Ile51Phe) is a Availability of data
polymorphism, whereas GERP score (++) showed that the
amino acids were non-conservative. However, it was noted Data will be available on contacting the corresponding
through the segregation analysis that the proband and author.
her mother, who displayed the clinical manifestations of References
typical RP, carried this novel variant. In contrast, her father
and daughter did not carry this mutation, and neither of 1. Jouret G, Poirsier C, Spodenkiewicz M, et al., 2019, Genetics
them developed RP. Therefore, it was concluded that this of Usher Syndrome: New insights from a meta-analysis. Otol
novel variant is likely to follow an autosomal dominant Neurotol, 40: 121–129.
inheritance pattern. However, there is a limitation in our https://doi.org/10.1097/MAO.0000000000002054
study, where only Sanger sequencing was used to identify 2. Boughman JA, Vernon M, Shaver KA, 1983, Usher
the variants in the proband’s mother; therefore, we could syndrome: Definition and estimate of prevalence from two
not determine whether the mother also carries some other high-risk populations. J Chronic Dis, 36: 595–603.
mutations in the USH2A gene family.
https://doi.org/10.1016 / 0021-9681(83)90147-9
4. Conclusions 3. Mathur P, Yang J, 2015, Usher syndrome: Hearing loss,
retinal degeneration and associated abnormalities. Biochim
In this report, we describe two heterozygous variants that Biophys Acta, 185: 406–420.
may potentially affect the development of RP in a Chinese
family. The c.151A>T (p.Ile51Phe) variant was identified https://doi.org/10.1016/j.bbadis.2014.11.020
as a novel mutation of the USH2A gene, which could be 4. Espinós C, Millán JM, Beneyto M, et al., 1998, Epidemiology
potentially harmful. The specific mechanism of this variant of Usher syndrome in Valencia and Spain. Community
in the development of RP needs to be further elucidated by Genet, 1: 223–228.
future research. The finding of this study further expands https://doi.org/10.1159 / 000016167
the mutation spectrum of the USH2A gene in Chinese
population. 5. Sun T, Xu K, Ren Y, et al., 2018, Comprehensive molecular
screening in Chinese Usher syndrome patients. Invest
Acknowledgment Ophthalmol Vis Sci, 59: 1229–1237.
https://doi.org/10.1167/iovs.17-23312
None.
6. Nakanishi H, Ohtsubo M, Iwasaki S, et al., 2011, Novel USH2A
Funding mutations in Japanese Usher syndrome type 2 patients:
Marked differences in the mutation spectrum between the
This work was not supported financially by any research Japanese and other populations. J Hum Genet, 56: 484–490.
grant.
https://doi.org/10.1038/jhg.2011.45
Conflicts of interest 7. Sahel JA, Marazova K, Audo I, 2014, Clinical characteristics
All authors have no conflicts of interest to declare. and current therapies for inherited retinal degenerations.
Cold Spring Harb Perspect Med, 5: a017111.
Authors’ contributions https://doi.org/10.1101/cshperspect.a017111
Conceptualization: Yalong Dang 8. Zhao Y, Hosono K, Suto K, et al., 2014, The first USH2A
Formal analysis: Haoliang Chen, Na Li, Junhui Wu mutation analysis of Japanese autosomal recessive retinitis
Investigation: Xuejiao Li pigmentosa patients: A totally different mutation profile
Writing – original draft: Xuejiao Li, Na Li, Yalong Dang with the lack of frequent mutations found in Caucasian
Writing – review & editing: Yalong Dang, Xuejiao Li patients. J Hum Genet, 59: 521–528.
https://doi.org/10.1038/jhg.2014.65
Ethics approval and consent to participate 9. Nakanishi H, Ohtsubo M, Iwasaki S, et al., 2010, Hair
The study was approved by the Ethics Committee of roots as an mRNA source for mutation analysis of Usher
Sanmenxia Central Hospital. All subjects signed the syndrome-causing genes. J Hum Genet, 55: 701–703.
informed consent forms. https://doi.org/10.1038/jhg.2010.83

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