International Journal of Ophthalmology (Jun 2022)

A novel Nance-Horan syndrome mutation identified by next-generation sequencing in a Chinese family

  • Hong-Yan Sun,
  • Hong-Jing Zhu,
  • Ru-Xu Sun,
  • Ying Wang,
  • Jia-Nan Wang,
  • Bing Qin,
  • Wei-Wei Zhang,
  • Jiang-Dong Ji

DOI
https://doi.org/10.18240/ijo.2022.06.22
Journal volume & issue
Vol. 15, no. 6
pp. 1015 – 1019

Abstract

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AIM: To identify the disease-causing mutation in a four-generation Chinese family diagnosed with Nance-Horan syndrome (NHS). METHODS: A Chinese family, including four affected patients and four healthy siblings, was recruited. All family members received ophthalmic examinations with medical histories provided. Targeted next-generation sequencing approach was conducted on the two affected males to screen for their disease-causing mutations. RESULTS: Two male family members diagnosed with NHS manifested bilateral congenital cataracts microcornea, strabismus and subtle facial and dental abnormalities, while female carriers presented posterior Y-sutural cataracts. A novel frameshift mutation (c.3916_3919del) in the NHS gene was identified. This deletion was predicted to alter the reading frame and generate a premature termination codon after a new reading frame. CONCLUSION: The study discovers a new frameshift mutation in a Chinese family with NHS. The findings broaden the spectrum of NHS mutations that can cause NHS in Chinese patients.

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