Cockayne综合征研究进展

Research Progress of Cockayne Syndrome

Cockayne综合征(Cockayne Syndrome, CS)是一种有多种临床表现的常染色体隐性遗传病,主要致病基因为ERCC6、ERCC8,与转录偶联核苷酸切除修复缺陷有关,此外转录缺陷、碱基切除DNA修复障碍、线粒体功能障碍等也可能参与发病。主要临床表现有体格生长受限、神经发育延迟/退化、小头畸形、皮肤光敏感、视听觉损害、早老面容等。神经影像学显示脑白质营养不良、脑萎缩、颅内钙化等特征性表现。有Cockayne综合征I型(经典型)、Cockayne综合征II型(重型)、Cockayne综合征III型(轻型)三种临床表型,以及紫外线敏感综合症(UVSS)及脑眼面骨骼综合征(COFS)两种变异型。该病罕见,发病率约0.027/万,我国目前多为个案报道,为提高对该病的认识,现就CS的临床表现、分子遗传学、诊断及治疗等方面进行综述。

Cockayne syndrome (CS) is an autosomal recessive genetic disease with various clinical manifestations. The main pathogenic genes are ERCC6, ERCC8. It’s associated with defects in transcription-coupled nucleotide excision repair (TC-NER), and may be related to defects in transcription, base excision DNA repair, mitochondrial functions, etc. The main clinical manifestations were growth failure, developmental retardation/regression, microcephaly, cutaneous photosensitivity, hearing and visual impairment, presenile face and so on. Neuroimaging shows characteristic performance including leukodystrophy, brain atrophy and intracranial calcification. Its clinical phenotype is divided into CS type I (classical), CS type II (severe) and CS type III (mild). Ultraviolet Susceptibility syndrome (UVSS) and Cerebro-oculo-facio-skeletal Syndrome (COFS) are its variants. It is a rare disease, with a prevalence of approximately 2.7 per million. At present, there are mostly case reports about this disease in China. This article reviews the clinical manifestations, molecular genetics, diagnosis and treatment of the CS in order to improve the knowledge of the disease.