International Journal of Ophthalmology | VOL. 15
Read

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

Publication Date Jun 18, 2022

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.

Concepts
Powered ByUnsilo

Nance-Horan Syndrome
Chinese Family
Targeted Next-generation Sequencing Approach
Nance-Horan Syndrome Gene
Frameshift Mutation
Mutation In Family
Healthy Siblings
Dental Abnormalities
Disease-causing Mutation
Chinese Patients

Introducing Weekly Round-ups!Beta

Powered by R DiscoveryR Discovery

Round-ups are the summaries of handpicked papers around trending topics published every week. These would enable you to scan through a collection of papers and decide if the paper is relevant to you before actually investing time into reading it.

Climate change Research Articles published between Jun 20, 2022 to Jun 26, 2022

R DiscoveryJun 27, 2022
R DiscoveryArticles Included:  2

One eighth of the bird species in the world is considered globally threatened; the avifauna of Iraq comprises 409 species and is considered as the maj...

Read More

Coronavirus Pandemic

You can also read COVID related content on R COVID-19

R ProductsCOVID-19

ONE PROBLEM . ONE PURPOSE . ONE PLACE

Creating the world’s largest AI-driven & human-curated collection of research, news, expert recommendations and educational resources on COVID-19

COVID-19 Dashboard