Comings D E, Comings B G
Department of Medical Genetics, City of Hope National Medical Center, Duarte, CA 91010.
Am J Med Genet. 1991 May 1;39(2):180-91. doi: 10.1002/ajmg.1320390213.
Children with autism or pervasive developmental disorder (PDD) and Tourette syndrome (TS) share a number of symptoms. Forty-one cases have been reported in which PDD patients subsequently developed TS. We term this PDD----TS. We describe an additional 16 such patients plus 3 families where a close relative of a TS proband had autism. There was a high frequency of alcoholism, drug abuse, obsessive-compulsive, and other behavior disorders in the relatives of these patients. This frequency was virtually identical to that observed in relatives of individuals with TS only. We suggest there is an intimate genetic, neuropathologic relatedness between some cases of PDD and TS. Many observations have led us to suggest that the genetic defect in TS may be a mutation of tryptophan oxygenase and that TS is inherited as a semidominant semirecessive trait, i.e., homozygosity for a common gene which shows some expression in the heterozygous state. We propose that some types of PDD are inherited in the same fashion and by the same gene. This would explain the similarity of symptoms, frequent evolution of PDD into TS, the apparent recessive inheritance of PDD despite no increase in consanguinity, the high frequency of behavior problems in the relatives of PDD----TS patients and the serotonin abnormalities.
患有自闭症或广泛性发育障碍（PDD）以及抽动秽语综合征（TS）的儿童有许多共同症状。已有41例报告称PDD患者随后发展为TS。我们将此称为PDD - - - - TS。我们描述了另外16例此类患者以及3个家庭，其中TS先证者的近亲患有自闭症。这些患者的亲属中酗酒、药物滥用、强迫症及其他行为障碍的发生率很高。这一发生率与仅患有TS的个体的亲属中观察到的发生率几乎相同。我们认为某些PDD病例与TS之间存在密切的遗传和神经病理学相关性。许多观察结果使我们认为TS中的遗传缺陷可能是色氨酸加氧酶的突变，并且TS作为半显性半隐性性状遗传，即一个常见基因的纯合性在杂合状态下有一定表达。我们提出某些类型的PDD以相同方式且由相同基因遗传。这将解释症状的相似性、PDD频繁演变为TS、尽管近亲结婚率未增加但PDD明显的隐性遗传、PDD - - - - TS患者亲属中行为问题的高发生率以及血清素异常。
