Ocular albinism with infertility and late-onset sensorineural hearing loss

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  • Bjørn K Fabian-Jessing
  • Else Marie Vestergaard
  • Astrid S Plomp, Department of Clinical Genetics, Academic Medical Center, Amsterdam, The Netherlands.
  • ,
  • Arthur A Bergen, Department of Clinical Genetics, Academic Medical Center, Amsterdam, The Netherlands.
  • ,
  • Wouter A Dreschler, Department of Otorhinolaryngology Head and Neck Surgery, Academic Medical Center, Amsterdam, The Netherlands.
  • ,
  • Morten Duno, Københavns Universitet
  • ,
  • Beata S Winiarska, Aalborg Universitet
  • ,
  • Linda Neumann, Aalborg Universitet
  • ,
  • Michael Gaihede
  • Henrik Vorum, Aalborg Universitet
  • ,
  • Michael B Petersen, Aalborg Universitet

Ocular albinism type 1 (OA1) is caused by mutations in the GPR143 gene located at Xp22.2. The manifestations, which are due to hypopigmentation, are confined to the eyes and optic pathway. OA1 associated with late-onset sensorineural hearing loss was previously reported in a single family and hypothesized to be caused by a contiguous gene deletion syndrome involving GPR143 and the adjacent gene, TBL1X. Here, we report on a family with OA1, infertility, late-onset sensorineural hearing loss, and a small interstitial Xp microdeletion including the GPR143, TBL1X, and SHROOM2 genes. In addition, we re-examined a patient previously described with OA1, infertility and a similar Xp deletion with audiologic follow-up showing a late-onset sensorineural hearing loss. Our results raise an intriguing question about the possibility for TBL1X (absence) involvement in this type of hearing loss. However, our study cannot claim a causative relationship and more convincing evidence is needed before the hypothesis can be accepted that TBL1X could be involved in late-onset sensorineural hearing loss and that ocular albinism with late-onset sensorineural hearing loss can present itself as a contiguous gene deletion/microdeletion syndrome. The finding of infertility in all affected male patients demonstrates that this deletion, including the SHROOM2 gene, may be a potentially causative X-linked genetic factor of male infertility.

TidsskriftAmerican Journal of Medical Genetics. Part A
Sider (fra-til)1587-1593
Antal sider7
StatusUdgivet - jul. 2018

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© 2018 Wiley Periodicals, Inc.

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