Gunay-Aygun M, Cassidy S B, Nicholls R D
Department of Genetics, Case Western Reserve University School of Medicine, University Hospitals of Cleveland, Ohio, USA.
Behav Genet. 1997 Jul;27(4):307-24. doi: 10.1023/a:1025683829856.
Constitutional obesity and mental retardation cooccur in several multiple congenital anomaly syndromes, including Prader-Willi syndrome, Bardet-Biedl syndrome, Cohen syndrome, Albright hereditary osteodystrophy, and Borjeson-Forssman-Lehmann syndrome as well as some rarer disorders. Although hypothalamic-pituitary axis abnormalities are thought to be a possible causative mechanism in some of these disorders, current knowledge is insufficient to explain the pathophysiologic mechanism of obesity in most multiple congenital anomaly/mental retardation syndromes. The chromosomal location of many of these syndromes is known, and studies are ongoing to identify the causative genes. Further delineation of the functions of the underlying genes will likely be instructive regarding mechanisms of appetite, satiety, and obesity in the general population. This review details current knowledge of the clinical and molecular genetic findings of multiple congenital anomaly/mental retardation syndromes associated with intrinsic obesity in an effort to delineate causative mechanisms and genetic abnormalities contributing to obesity.
在多种先天性异常综合征中，包括普拉德-威利综合征、巴德-比德尔综合征、科恩综合征、奥尔布赖特遗传性骨营养不良和博耶森-福斯曼-莱曼综合征以及一些罕见疾病，都会同时出现体质性肥胖和智力发育迟缓。尽管下丘脑-垂体轴异常被认为是其中一些疾病可能的致病机制，但目前的知识不足以解释大多数先天性异常/智力发育迟缓综合征中肥胖的病理生理机制。许多这些综合征的染色体定位是已知的，并且正在进行研究以确定致病基因。进一步阐明相关基因的功能可能会为普通人群中食欲、饱腹感和肥胖的机制提供指导。本综述详细介绍了与内在性肥胖相关的先天性异常/智力发育迟缓综合征的临床和分子遗传学研究现状，以努力阐明导致肥胖的致病机制和基因异常。
