Variants in the circadian clock genes PER2 and PER3 associate with familial sleep phase disorders

Fifteen patients with extreme chronotypes were identified, including 13 with evening and 2 with morning types.

• Genetic variants in circadian clock genes were examined in a Slovenian cohort to assess their role in sleep disorders.
• Two heterozygous missense variants in the gene associated with Advanced sleep phase disorder were identified in a patient with an extreme morning chronotype.
• A rare genetic variant was found in a patient with Delayed sleep phase disorder.
• Autosomal dominant inheritance was observed in a family with two heterozygous variants linked to Advanced sleep phase disorder.
• A rare hereditary form of Delayed sleep phase disorder was revealed through the identification of a novel variant.

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