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Ocular albinism with infertility and late-onset sensorineural hearing loss

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  • Bjørn K Fabian-Jessing
  • Else Marie Vestergaard
  • Astrid S Plomp
  • Arthur A Bergen
  • Wouter A Dreschler
  • Morten Duno
  • Beata S Winiarska
  • Linda Neumann
  • Michael Gaihede
  • Henrik Vorum
  • Michael B Petersen
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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.

Original languageEnglish
JournalAmerican Journal of Medical Genetics. Part A
Volume176
Issue number7
Pages (from-to)1587-1593
Number of pages7
ISSN1552-4825
DOIs
Publication statusPublished - Jul 2018

ID: 56214028