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

被引：34

作者：

De Leersnyder, Helene ^{[1
]}

Claustrat, Bruno

Munnich, Arnold

Verloes, Alain

机构：

[1] Hop Robert Debre, Dept Genet, F-75019 Paris, France

[2] Neurol Hosp, Nucl Med Ctr, Lyon, France

[3] Hosp Neckerk Enfants Malad, Dept Genet, Paris, France

来源：

MOLECULAR AND CELLULAR ENDOCRINOLOGY | 2006年 / 252卷 / 1-2期

关键词：

Smith-Magenis syndrome; melatonin; circadian rhythm; beta-blockers;

D O I：

10.1016/j.mce.2006.03.043

中图分类号：

Q2 [细胞生物学];

学科分类号：

071009 ; 090102 ;

摘要：

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 17p 11.2 may cause the inversion of circadian rhythm in SMS. (c) 2006 Elsevier Ireland Ltd. All rights reserved.

引用

页码：88 / 91

页数：4

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