Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation
Case Reports
. 2020 Dec;29(6):e12982.
doi: 10.1111/jsr.12982. Epub 2020 Jan 14.

Aniridia with PAX6 mutations and narcolepsy

Shala Ghaderi Berntsson  1 , Anna Kristoffersson  1   2 , Makrina Daniilidou  1 , Niklas Dahl  3 , Curt Ekström  4 , Robert Semnic  5 , Agneta Markström  6 , Valter Niemelä  1 , Markku Partinen  7   8 , Finn Hallböök  9 , Anne-Marie Landtblom  1   2
Affiliations
Case Reports

Aniridia with PAX6 mutations and narcolepsy

Shala Ghaderi Berntsson et al. J Sleep Res. 2020 Dec.

Erratum in

  • Corrigendum.
    [No authors listed] [No authors listed] J Sleep Res. 2023 Feb;32(1):e13688. doi: 10.1111/jsr.13688. J Sleep Res. 2023. PMID: 36653301 No abstract available.

Abstract

PAX6 gene mutations cause a variety of eye and central nervous system (CNS) abnormalities. Aniridia is often accompanied by CNS abnormalities such as pineal gland atrophy or hypoplasia, leading to disturbed circadian rhythm and sleep disorders. Less is known on the coincidence of narcolepsy in this patient group. We aimed to find out whether the circadian rhythm or sleep-wake structure was affected in patients with aniridia. Four members of a family segregating with congenital aniridia in two generations were included in the study. The patients were subjected to genetic testing for a PAX6 mutation, multiple sleep latency test, whole-brain magnetic resonance imaging (MRI), hypocretin-1 in cerebrospinal fluid, and Human Leukocyte Antigen DQ beta1*06:02. All four members were heterozygous for the pathogenic c.959-1G>A mutation in the PAX6 gene. Sleep disturbance was observed in all family members. The index patient was diagnosed with narcolepsy. MRI showed a hypoplastic pineal gland in all members. We describe the first case of a patient with PAX6 haploinsufficiency, aniridia and pineal gland hypoplasia diagnosed with narcolepsy type-1, suggesting a complex sleep disorder pathogenesis.

Keywords: PAX6 haploinsufficiency; absence of iris; narcolepsy; pineal gland atrophy.

PubMed Disclaimer

References

REFERENCES

    1. Abouzeid, H., Youssef, M. A., ElShakankiri, N., Hauser, P., Munier, F. L., & Schorderet, D. F. (2009). PAX6 aniridia and interhemispheric brain anomalies. Molecular Vision, 15, 2074-2083.
    1. Ban, H. J., Kim, S. C., Seo, J., Kang, H. B., & Choi, J. K. (2011). Genetic and metabolic characterization of insomnia. PLoS ONE, 6(4), e18455. https://doi.org/10.1371/journal.pone.0018455
    1. Bassetti, C. L. A., Adamantidis, A., Burdakov, D., Han, F., Gay, S., Kallweit, U., … Dauvilliers, Y. (2019). Narcolepsy - Clinical spectrum, aetiopathophysiology, diagnosis and treatment. Nature Reviews. Neurology, 15(9), 519-539. https://doi.org/10.1038/s41582-019-0226-9
    1. Eden, U., Iggman, D., Riise, R., & Tornqvist, K. (2008). Epidemiology of aniridia in Sweden and Norway. Acta Ophthalmologica, 86(7), 727-729. https://doi.org/10.1111/j.1755-3768.2008.01309.x
    1. Estivill-Torrus, G., Vitalis, T., Fernandez-Llebrez, P., & Price, D. J. (2001). The transcription factor Pax6 is required for development of the diencephalic dorsal midline secretory radial glia that form the subcommissural organ. Mechanisms of Development, 109(2), 215-224. https://doi.org/10.1016/S0925-4773(01)00527-5

Publication types

Substances

Associated data

LinkOut - more resources