Abstract
Congenital anophthalmia is a rare eye anomaly which lacks a recognizable eye in the orbit. It can be isolated (nonsyndromic) or be observed as a sign of other diseases (syndromic). A Chinese infant was born with bilateral anophthalmia and palpebral fissure closures. Ocular and systemic examinations were performed, and genomic DNA was prepared from peripheral leukocytes. The coding exons and the adjacent intrinsic sequence of SOX2 were analysed by Sanger sequencing. A c.70_89del (p. Asn24ArgfsX65; rs398123693) mutation in SOX2 was identified in the Chinese infant with bilateral clinical anophthalmia and sensorineural hearing loss. This mutation was not detected in the unaffected parents and 150 unaffected control individuals. Mutation in SOX2 is associated with bilateral clinical anophthalmia and probably with other anomalies in the Chinese infant. Until now hearing loss has not been reported in individuals with SOX2 mutation. The results remind us that clinical anophthalmia may be accompanied by sensorineural hearing loss and may be associated with SOX2 mutation, and it will contribute to improving diagnosis and patient care. Given that children with anophthalmia already have reduced sight, it seems worthwhile to make a point of careful vigilance on hearing for all such patients.
This is a preview of subscription content, log in via an institution to check access.
References
Bakrania P., Robinson D. O., Bunyan D. J., Salt A., Martin A., Crolla J. A. et al. 2007 SOX2 anophthalmia syndrome: 12 new cases demonstrating broader phenotype and high frequency of large gene deletions. Br. J. Ophthalmol. 91, 1471–1476.
Chacon-Camacho O. F., Fuerte-Flores B. I., Ricardez-Marcial E. F. and Zenteno J. C. 2015 SOX2 anophthalmia syndrome and dental anomalies. Am. J. Med. Genet. A. 167, 2830–2833.
Faivre L., Williamson K. A., Faber V., Laurent N., Grimaldi M., Thauvin-Robinet C. et al. 2006 Recurrence of SOX2 anophthalmia syndrome with gonosomal mosaicism in a phenotypically normal mother. Am. J. Med. Genet. A. 140, 636–639.
Fantes J., Ragge N. K., Lynch S. A., McGill N. I., Collin J. R., Hayward C. et al. 2003 Mutations in SOX2 cause anophthalmia. Nat. Genet. 33, 461–463.
Ragge N. K., Lorenz B., Schneider A., Bushby K., Sanctis L. D., Sanctis U. D. et al. 2005 SOX2 anophthalmia syndrome. Am. J. Med. Genet. A. 135, 1–7.
Reis L. M., Tyler R. C., Schneider A., Bardakjian T. and Semina E. V. 2010 Examination of SOX2 in variable ocular conditions identifies a recurrent deletion in microphthalmia and lack of mutations in other phenotypes. Mol. Vis. 16, 768–773.
Schneider A., Bardakjian T. M., Zhou J., Hughes N., Keep R., Dorsainville D. et al. 2008 Familial recurrence of SOX2 anophthalmia syndrome: phenotypically normal mother with two affected daughters. Am. J. Med. Genet. A. 146, 2794–2798.
Schneider A., Bardakjian T., Reis L. M., Tyler R. C. and Semina E. V. 2009 Novel SOX2 mutations and genotype–phenotype correlation in anophthalmia and microphthalmia. Am. J. Med. Genet. A. 149, 2706–2715.
Tucker S., Jones B. and Collin R. 1996 Systemic anomalies in 77 patients with congenital anophthalmos or microphthalmos. Eye (Lond). 10, 310–314.
Wang P., Liang X., Yi J. and Zhang Q. 2008 Novel SOX2 mutation associated with ocular coloboma in a Chinese family. Arch. Ophthalmol. 126, 709–713.
Williamson K. A. and FitzPatrick D. R. 2014 The genetic architecture of microphthalmia, anophthalmia and coloboma. Eur. J. Med. Genet. 57, 369–380.
Zenteno J. C., Gascon-Guzman G. and Tovilla-Canales J. L. 2005 Bilateral anophthalmia and brain malformations caused by a 20-bp deletion in the SOX2 gene. Clin. Genet. 68, 564–566.
Acknowledgements
We would like to thank the family members who participated in this study. This work was supported by the National Natural Science Foundation of China (no. 81570841) and the Southwest Medical University Affiliated Hospital Foundation (no. 16004).
Author information
Authors and Affiliations
Corresponding author
Additional information
Corresponding editor: Kunal Ray
Rights and permissions
About this article
Cite this article
Zhang, Y., Zhang, X., Long, R. et al. A novel deletion mutation of the SOX2 gene in a child of Chinese origin with congenital bilateral anophthalmia and sensorineural hearing loss. J Genet 97, 1007–1011 (2018). https://doi.org/10.1007/s12041-018-0970-4
Received:
Revised:
Accepted:
Published:
Issue Date:
DOI: https://doi.org/10.1007/s12041-018-0970-4