Circadian rhythm disorder in a rare disease: Smith–Magenis syndrome

De Leersnyder, Hélène; Claustrat, Bruno; Munnich, Arnold; Verloes, Alain

doi:10.1016/j.mce.2006.03.043

Cited by 56Circadian rhythm and melatoninSleep and Wakefulness ResearchSleep and related disorders

Circadian rhythm disorder in a rare disease: Smith–Magenis syndrome

De Leersnyder, Hélène, Claustrat, Bruno, Munnich, Arnold, Verloes, Alain·2006·Molecular and Cellular Endocrinology

DOI 10.1016/j.mce.2006.03.043

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Abstract

Smith-Magenis syndrome (SMS) is a clinically recognizable contiguous gene syndrome, caused by interstitial deletion of chromosome 17p11.2. The SMS phenotype include distinctive facial features, developmental delay and neurobehavioral abnormalities. The patients present major sleep disturbances ascribed to a phase shift of their circadian rhythm of melatonin with a paradoxical diurnal secretion of the hormone. Treatment with morning beta-blockers and evening melatonin reinstated a normally timed melatonin circadian rhythm, improved daytime behavior and restored normal sleep habits, resulting in a greatly improved quality of life for both SMS patients and their family. SMS is the demonstration of biological basis for sleep disorder in a genetic disease. Considering that clock genes mediate generation of circadian rhythms, we suggest that haploinsufficiency for a circadian system gene mapping to chromosome 17p11.2 may cause the inversion of circadian rhythm in SMS.

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Therapies targeting the reversal of melatonin rhythms in patients with SMS may improve sleep, as well as behaviour, attention and learning.
“Thus, therapies targeting the reversal of melatonin rhythms in patients with SMS may improve sleep, as well as behaviour, attention and learning137–139.”
From Rhythms of life: circadian disruption and brain disorders across the lifespan (2019) · cites this paper as [138]

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Smith–Magenis syndrome
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[Inversion of the circadian melatonin rhythm in Smith-Magenis syndrome].
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Inversion of the circadian rhythm of melatonin in the Smith-Magenis syndrome
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Self-citation

Authors: De Leersnyder, H., Claustrat, B., Munnich, A., & Verloes, A.
Affiliations: Hospices Civils de Lyon (FR)
ORCID: Claustrat, Bruno
Venue: Molecular and Cellular Endocrinology
Publisher: Elsevier BV
Published: 2006-06
Volume: 252
Issue: 1-2
Pages: 88-91
ISSN: 0303-7207 (ISSN-L)
DOI: 10.1016/j.mce.2006.03.043
OpenAlex: W1974817936
Cited by: 56
References: 17
Citations by year: 2025: 1 · 2024: 2 · 2022: 3 · 2021: 5 · 2020: 2 · 2019: 2 · 2018: 3 · 2017: 2 · 2016: 1 · 2015: 3 · 2014: 2 · 2013: 4 · 2012: 4
FWCI: 1.68
Type: journal article
Language: en
Open access: closed
Licence: www.elsevier.com/tdm/userlicense/1.0/ (tdm)
Locations: Molecular and Cellular Endocrinology (publishedVersion)
PubMed (publishedVersion)
Topics: Life Sciences › Neuroscience › Endocrine and Autonomic Systems › Circadian rhythm and melatonin
Life Sciences › Neuroscience › Cognitive Neuroscience › Sleep and Wakefulness Research
Social Sciences › Psychology › Experimental and Cognitive Psychology › Sleep and related disorders
Keywords: Smith-Magenis syndrome, circadian rhythm disorders, melatonin secretion, sleep disorders, chromosome 17p11.2 deletion, contiguous gene syndrome, beta-blockers, melatonin therapy, clock genes, haploinsufficiency, developmental delay, neurobehavioral abnormalities
MeSH terms: Child, Developmental Disabilities, Circadian Rhythm, Humans, Melatonin, Nervous System Diseases, Pineal Gland, Syndrome, Genetic Diseases, Inborn

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Circadian rhythm disorder in a rare disease: Smith–Magenis syndrome

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