糖尿病、尿崩症和视神经萎缩。一种常染色体隐性综合征？
Diabetes mellitus, diabetes insipidus, and optic atrophy. An autosomal recessive syndrome?
作者信息
Fraser F C, Gunn T
出版信息
J Med Genet. 1977 Jun;14(3):190-3. doi: 10.1136/jmg.14.3.190.
Abstract
Twenty-one families were selected from the published reports in which the propositus had the triad of juvenile diabetes mellitus, diabetes insipidus, and optic atrophy. The data were consistent with the hypothesis of an autosomal gene which, in the homozygote, causes juvenile diabetes mellitus and one or more of diabetes insipidus, optic atrophy, and nerve deafness. Heterozygotes appear to have an increased probability of developing juvenile diabetes mellitus.
摘要
从已发表的报告中选取了21个家系，其中先证者患有青少年糖尿病、尿崩症和视神经萎缩三联征。数据与常染色体基因假说相符，该基因在纯合子时会导致青少年糖尿病以及尿崩症、视神经萎缩和神经性耳聋中的一种或多种。杂合子患青少年糖尿病的概率似乎增加。
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