A frequent variant in the Japanese population determines quasi-Mendelian inheritance of rare retinal ciliopathy

Journal: Nature Communications

Published: 2019-06-28

DOI: 10.1038/s41467-019-10746-4

Affiliations: 19

Authors: 28

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Research Highlight

Eye disease inherited in novel way

© Callista Images/Getty

© Callista Images/Getty

A relatively common gene mutation among Japanese individuals can give rise to vision problems through a complex inheritance pattern.

Hereditary eye diseases usually arise from rare DNA mutations that follow classic genetic patterns to cause vision loss or blindness.

Now, scientists from Tohoku University Graduate School of Medicine and elsewhere conducted a genomic screen of 331 unrelated Japanese patients with degeneration of the eye’s retinal tissue. They discovered three mutations in RP1, a gene previously linked to an eye disorder called retinitis pigmentosa.

Two mutations behaved as recessive mutations, meaning that patients with two copies of the gene variant experienced vision loss. The third mutation, however, did not follow this classical ‘Mendelian’ pattern.

Patients with the third mutation showed signs of retinal disease only if they also carried another type of mutation in RP1 or in another vision-associated gene.

The findings should help clinicians better diagnose the genetic basis of vision loss, especially among East Asian individuals.

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  1. Nature Communications 10, 2884 (2019). doi: 10.1038/s41467-019-10746-4
Institutions Share
University of Lausanne (UNIL), Switzerland 0.24
RIKEN Center for Integrative Medical Sciences (IMS), Japan 0.14
Kyushu University, Japan 0.11
Tohoku University, Japan 0.07
Nagoya University, Japan 0.07
Yokohama City University (YCU), Japan 0.07
Donders Institute for Brain, Cognition and Behaviour, Netherlands 0.04
Tokyo Medical and Dental University (TMDU), Japan 0.04
Radboud University Medical Centre (Radboudumc), RU, Netherlands 0.04
Juntendo University, Japan 0.04
Yuko Wada Eye Clinic, Japan 0.04
University Institute of Social and Preventive Medicine (IUMSP), UNIL, Switzerland 0.04
Tohoku Medical Megabank Organization (ToMMo), Tohoku University, Japan 0.04
University Hospital of Lausanne (CHUV), UNIL, Switzerland 0.02
University of Leicester, United Kingdom (UK) 0.01
Institute of Molecular and Clinical Ophthalmology Basel (IOB), Switzerland 0.01
University of Basel (UB), Switzerland 0.01