English (United Kingdom)

https://curated-unify.zendy.io/wp-json/zendy-region/v1/featured_content/oa?rat=en

https://curated-unify.zendy.io/wp-json/zendy-region/v1/highlighted_journal/

Global: Zendy Plus annual

Presents the access of premium content as premium feature

Premium Content

Presents the keyphrase highlighting as premium feature

Keyphrase Highlighting

Presents the summarisation as premium feature

Summarisation

Insights

Presents the pdf analysis as premium feature

PDF Analysis

Presents the zaia usage as premium feature

ZAIA

Global: Zendy Tools annual

Global: Zendy Free Plan

Global: Zendy Tools monthly

Global: Zendy Plus monthly

Familial exudative vitreoretinopathy (FEVR) is a rare retinal disorder characterised by incomplete retinal vascular development. Symptoms vary widely from none to blindness even within the same family. Multiple genes related to the Wnt pathway have been found to be associated with FEVR. Recent studies identified tetraspanin 12 ( TSPAN12 ) as a cause of the autosomal dominant inheritance form of FEVR. Here, we describe a novel  TSPAN12  mutation in a Chinese family with FEVR. Targeted next-generation sequencing was performed on the proband to define the  TSPAN12  mutation. Sanger sequencing was used to confirm the mutation in five family members (I-1, II-2, II-3, II-4, and III-3) in a three-generation FEVR pedigree. Ophthalmologic examinations and diagnostic imaging related to FEVR were performed. The proband (II-3) was a 32-year-old man with early-stage peripheral retinal vascular anomalies, but no visual acuity problems. DNA sequencing identified a heterozygous missense mutation (c.241 G &gt; A: p.Gly81Arg) in  TSPAN12  in the proband. The mutation was in a highly conserved region and was predicted to affect the normal protein structure. The patient’s father and daughter were also diagnosed with FEVR and carried the same mutation, with varying degrees of manifestations. Other family members had good vision and normal eye examinations with negative genetic testing. We identified a novel missense mutation in  TSPAN12  associated with autosomal dominant FEVR. These results will facilitate the diagnosis, prognosis, and genetic counselling for this disease. Further studies are needed to identify the mechanisms underlying clinical variations among individuals in the family.

Novel mutation in TSPAN12 associated with familial exudative vitreoretinopathy in a Chinese pedigree