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

Abstract

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.

Microvasculature and microstructure alteration in dry‐type high myopia

“…Similar to our study, Sun et al found the vascular densities and microstructure were significantly lower in the C2 group. However, they did not further investigate variations in its related factors [35]. In the present study, an interesting observation is that vascular densities significantly decreased with the increase of AL and refractive diopter in the C2 group, there were no significant changes in vascular densities between C0 and C1 groups.…”