摘要Smith-Magenis综合征(OMIM 182290)是一种罕见的遗传综合征，主要由染色体17p11.2区的 RAI1基因缺失或变异引起，其临床表型包括智力低下、社交障碍、发育畸形、自残行为等，绝大多数患者存在睡眠障碍，表现为夜间睡眠时间短、睡眠效率低、夜间醒来频繁等。研究显示多数患者存在白天的褪黑素分泌高峰及昼夜节律基因的异常表达，生物节律相关内分泌异常。 RAI1变异缺失对昼夜节律基因表达调控异常，以及17号染色体上 SMSCR(Smith-Magenis syndrome critical region)及其临近基因的表达改变都可能影响睡眠障碍的产生。

abstractsSmith-Magenis syndrome (SMS) (OMIM #182290) is a rare genetic disorder with a prevalence of 1 in 25 000 live births. Approximately 90% of SMS patients have harbored a 3.7 Mb interstitial 17p11.2 deletion involving the RAI1 gene, while 10% of cases have carried pathogenic variants of the RAI1 gene. SMS is characterized by sleep disturbance, intellectual impairment, developmental delay, craniofacial and cardiovascular anomalies, obesity, self injury, aggressive and autistic-like behaviors. Most SMS patients have sleep disorders such as short total sleep time, frequent night waking, short sleep onset, and early morning waking. The sleep disturbance may aggravate with age and persist throughout life. Three mechanisms have been delineated. The first concern was the abnormal secretion of melatonin, with high levels during daytime and low levels at night. Evaluation of the integrity of the intrinsically photosensitive retinal ganglion cell (ipRGC)/melanopsin system has found that SMS patients showed dysfunction in the sustained component of the pupillary light responses to blue light. Synchronization of daily melatonin profile and its photoinhibition are dependent on the activation of melanopsin. Dysfunction of the retina-melanin system may be one of the causes of melatonin spectrum disorders. Secondly, dysregulation of circadian rhythm gene expression has also been noted in mice and SMS patients. Finally, there may be association between sleep deprivation symptoms and DNA methylation patterns, which has provided new insights for SMS-associated sleep disorders and symptoms alike. Treatment for SMS-associated sleep disorders is administered primarily through medications like melatonin tablets, which can alleviate insomnia-related sleep difficulties, in particular externalizing behavior in children. Researchers are also actively exploring other treatments for SMS currently.