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In a highly inbred Arab family with ataxia-telangiectasia of complementation group A (ATA; 208900), Ziv et al. (1992) found 3 individuals who had ataxia, hypotonia, microcephaly, and congenital cataracts with nystagmus. Mental retardation was also observed in 1 of the 3 persons. The one individual appeared to be affected with both ataxia-telangiectasia and the AMC syndrome. Findings of the AMC syndrome resembled the Marinesco-Sjogren syndrome (MSS; 248800); however, microcephaly is not part of MSS, and mental retardation was present in only 1 of the AMC patients. Cataract is not characteristic of any of the known disorders that simulate ataxia-telangiectasia. That the AMC syndrome was an entity separate from AT in the Arab family was indicated by linkage studies.
Ziv, Y., Frydman, M., Lange, E., Zelnik, N., Rotman, G., Julier, C., Jaspers, N. G. J., Dagan, Y., Abeliovicz, D., Dar, H., Borochowitz, Z., Lathrop, M., Gatti, R. A., Shiloh, Y. Ataxia-telangiectasia: linkage analysis in highly inbred Arab and Druze families and differentiation from an ataxia-microcephaly-cataract syndrome. Hum. Genet. 88: 619-626, 1992. [PubMed: 1551665] [Full Text: https://doi.org/10.1007/BF02265285]