Further evidence for loss-of-function mutations in the CEACAM16 gene causing nonsyndromic autosomal recessive hearing loss in humans

J Hum Genet. 2019 Mar;64(3):257-260. doi: 10.1038/s10038-018-0546-4. Epub 2018 Dec 4.


Mutations in the CEACAM6 gene were first described as causing autosomal dominant nonsyndromic hearing loss, but two splice-altering variants have been recently described as causing autosomal recessive nonsyndromic hearing loss. We describe the novel and extremely rare loss-of-function variant c.436 C > T/p.(Arg146Ter) in the CEACAM16 gene segregating with post-lingual progressive autosomal recessive hearing loss. This variant is predicted to significantly reduce the size of the wild type protein. Our results give additional support that loss-of-function variants in CEACAM16 cause autosomal recessive hearing loss in humans.

MeSH terms

  • Antigens, CD / genetics*
  • Cell Adhesion Molecules / genetics*
  • Deafness / genetics*
  • Female
  • GPI-Linked Proteins / genetics
  • Genes, Recessive*
  • Humans
  • Male
  • Mutation*
  • Pedigree


  • Antigens, CD
  • CEACAM6 protein, human
  • Cell Adhesion Molecules
  • GPI-Linked Proteins

Supplementary concepts

  • Nonsyndromic Deafness