ArticleInternational journal of ophthalmology2022
A novel Nance-Horan syndrome mutation identified by next-generation sequencing in a Chinese family.
Article in International journal of ophthalmology, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.
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8 authors at 2 institutions in 1 country.
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Abstract
aimTo identify the disease-causing mutation in a four-generation Chinese family diagnosed with Nance-Horan syndrome (NHS).
methodsA 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.
resultsTwo 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.
conclusionThe 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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