دورية أكاديمية
Variants in the circadian clock genes PER2 and PER3 associate with familial sleep phase disorders.
| العنوان: | Variants in the circadian clock genes PER2 and PER3 associate with familial sleep phase disorders. |
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| المؤلفون: | Plavc L; Institute of Clinical Neurophysiology, University Medical Centre Ljubljana, Ljubljana, Slovenia.; Centre for Functional Genomics and Bio-Chips, Institute of Biochemistry and Molecular Genetics, Faculty of Medicine, University of Ljubljana, Ljubljana, Slovenia., Skubic C; Centre for Functional Genomics and Bio-Chips, Institute of Biochemistry and Molecular Genetics, Faculty of Medicine, University of Ljubljana, Ljubljana, Slovenia., Dolenc Grošelj L; Institute of Clinical Neurophysiology, University Medical Centre Ljubljana, Ljubljana, Slovenia.; Department of Neurology, Faculty of Medicine, University of Ljubljana, Ljubljana, Slovenia., Rozman D; Centre for Functional Genomics and Bio-Chips, Institute of Biochemistry and Molecular Genetics, Faculty of Medicine, University of Ljubljana, Ljubljana, Slovenia. |
| المصدر: | Chronobiology international [Chronobiol Int] 2024 May; Vol. 41 (5), pp. 757-766. Date of Electronic Publication: 2024 May 02. |
| نوع المنشور: | Journal Article |
| اللغة: | English |
| بيانات الدورية: | Publisher: Informa Healthcare Country of Publication: England NLM ID: 8501362 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1525-6073 (Electronic) Linking ISSN: 07420528 NLM ISO Abbreviation: Chronobiol Int Subsets: MEDLINE |
| أسماء مطبوعة: | Publication: London : Informa Healthcare Original Publication: Oxford ; New York : Pergamon Press, c1984- |
| مواضيع طبية MeSH: | Period Circadian Proteins*/genetics , Polymorphism, Single Nucleotide* , Sleep Disorders, Circadian Rhythm*/genetics , Circadian Clocks*/genetics, Humans ; Male ; Female ; Adult ; Middle Aged ; Circadian Rhythm/genetics ; Circadian Rhythm/physiology ; Genetic Predisposition to Disease ; Slovenia ; Pedigree ; Sleep/genetics ; Sleep/physiology ; Young Adult |
| مستخلص: | Delayed sleep phase disorder and advanced sleep phase disorder cause disruption of the circadian clock and present with extreme morning/evening chronotype with unclear role of the genetic etiology, especially for delayed sleep phase disorder. To assess if genotyping can aid in clinical diagnosis, we examined the presence of genetic variants in circadian clock genes previously linked to both sleep disorders in Slovenian patient cohort. Based on Morning-evening questionnaire, we found 15 patients with extreme chronotypes, 13 evening and 2 morning, and 28 controls. Sanger sequencing was used to determine the presence of carefully selected candidate SNPs in regions of the CSNK1D , PER2/3 and CRY1 genes. In a patient with an extreme morning chronotype and a family history of circadian sleep disorder we identified two heterozygous missense variants in PER3 gene, c.1243C>G (NM_001377275.1 (p.Pro415Ala)) and c.1250A>G (NM_001377275.1 (p.His417Arg)). The variants were significantly linked to Advanced sleep phase disorder and were also found in proband's father with extreme morningness. Additionally, a rare SNP was found in PER2 gene in a patient with clinical picture of Delayed sleep phase disorder. The novel variant in PER2 (NM_022817.3):c.1901-218 G>T was found in proband's parent with eveningness, indicating an autosomal dominant inheritance . We identified a family with autosomal dominant inheritance of two PER3 heterozygous variants that can be linked to Advanced sleep phase disorder. We revealed also a rare hereditary form of Delayed sleep phase disorder with a new PER2 variant with autosomal dominant inheritance, shedding the light into the genetic causality. |
| فهرسة مساهمة: | Keywords: Circadian clock; PER2; PER3; genetics; genotyping; sleep phase disorders |
| المشرفين على المادة: | 0 (PER2 protein, human) 0 (PER3 protein, human) |
| تواريخ الأحداث: | Date Created: 20240502 Date Completed: 20240521 Latest Revision: 20240830 |
| رمز التحديث: | 20240830 |
| DOI: | 10.1080/07420528.2024.2348016 |
| PMID: | 38695651 |
| قاعدة البيانات: | MEDLINE |
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Full Text Finder | تدمد: | 1525-6073 |
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| DOI: | 10.1080/07420528.2024.2348016 |