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
Department of Computational Biology, UNIL, Switzerland 0.24
RIKEN Laboratory for Statistical Analysis, Japan 0.11
School of Medicine / Graduate School of Medical Sciences / Faculty of Medical Sciences, Kyushu University, Japan 0.11
Graduate School of Medicine / School of Medicine, Tohoku University, Japan 0.07
Graduate School / School of Medicine, Nagoya University, Japan 0.07
Faculty / Graduate School of Medicine, YCU, Japan 0.07
Donders Institute for Brain, Cognition and Behaviour, Netherlands 0.04
Department of Medical Science Mathematics, TMDU, Japan 0.04
Department of Human Genetics, RU, Netherlands 0.04
Department of Integrative Genomics, Tohoku University, Japan 0.04
Yuko Wada Eye Clinic, Japan 0.04
RIKEN Center for Integrative Medical Sciences (IMS), Japan 0.04
University Institute of Social and Preventive Medicine (IUMSP), UNIL, Switzerland 0.04
School of Medicine, Juntendo University, Japan 0.04
University Hospital of Lausanne (CHUV), UNIL, Switzerland 0.02
Department of Genetics and Genome Biology, 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