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

Abstract

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.

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Acknowledgements

The authors are indebted to Humberto Cezar Marcolino for technical assistance. We thank Dr. Alfredo Tabith Junior and all DERDIC staff for clinical assistance. This work was supported by FAPESP - CEPID Human Genome Research Center 2013/08028-1, Coordinator: Mayana Zatz). We thank all family members for participation in the study.

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Conflict of interest

The authors declare that they have no conflict of interest.

Correspondence to Regina Célia Mingroni-Netto.

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