On variants and disease-causing mutations: Case studies of a SEMA4A variant identified in inherited blindness

Ophthalmic Genet. 2018 Jan-Feb;39(1):144-146. doi: 10.1080/13816810.2017.1354384. Epub 2017 Aug 14.

Abstract

The p.R713Q variant of the semaphorin-4a-encoding gene, SEMA4a, has been reported to cause autosomal dominant retinitis pigmentosa. Here we show three families with retinal degeneration in which unaffected family members are either homozygous or heterozygous for the variant. The p.R713Q variant in SEMA4A is insufficient to cause either autosomal recessive or autosomal dominant retinitis pigmentosa and is unlikely to be pathogenic.

Keywords: SEMA4A; genetic diagnosis; macular degeneration; next generation sequencing; retinitis pigmentosa; variant analysis.

Publication types

  • Research Support, Non-U.S. Gov't
  • Research Support, N.I.H., Extramural

MeSH terms

  • Adult
  • Aged
  • Blindness / genetics*
  • DNA Mutational Analysis
  • Exome Sequencing
  • Female
  • Heterozygote
  • Humans
  • Macular Degeneration / diagnosis
  • Macular Degeneration / genetics*
  • Male
  • Mutation, Missense*
  • Pedigree
  • Retinal Degeneration / diagnosis
  • Retinal Degeneration / genetics*
  • Retinitis Pigmentosa / diagnosis
  • Retinitis Pigmentosa / genetics*
  • Semaphorins / genetics*

Substances

  • SEMA4A protein, human
  • Semaphorins