Ionasescu V V, Trofatter J, Haines J L, Summers A M, Ionasescu R, Searby C
Department of Pediatrics, University of Iowa Hospitals, Iowa City 52242.
Muscle Nerve. 1992 Mar;15(3):368-73. doi: 10.1002/mus.880150317.
We describe three families with X-linked recessive Charcot-Marie-Tooth (CMT) neuropathies. The disease phenotype in family 1 was characterized by infantile onset, weakness of lower legs, areflexia, pes cavus, and mental retardation (2 of 5 patients). The disease phenotype in families 2 and 3 was characterized by late onset, distal weakness, and normal intelligence. Hereditary spastic paraparesis was also present in the CMT patients of family 2. Thirty X-linked DNA markers were used for linkage studies. A maximum lod score of +3.48 was obtained by multipoint linkage analysis for the DXS16 locus mapped at Xp22.2 in family 1. In families 2 and 3, there was suggestion of linkage of Xq26 markers; the peak multipoint lod score for these 2 CMT families was 1.81, at DXS144. These results were suggestive of heterogeneity. The joint analysis including both regions (Xp22.2 and Xq26) provided evidence against homogeneity (chi 2 = 9.12, P less than 0.005).
我们描述了三个患有X连锁隐性遗传性运动感觉神经病（CMT）的家系。家系1中的疾病表型特征为婴儿期起病、小腿无力、无反射、高弓足和智力发育迟缓（5例患者中有2例）。家系2和家系3中的疾病表型特征为起病较晚、远端无力和智力正常。家系2的CMT患者中还存在遗传性痉挛性截瘫。使用30个X连锁DNA标记进行连锁研究。家系1中，位于Xp22.2的DXS16位点通过多点连锁分析获得的最大对数优势得分为+3.48。在2和家系3中，提示Xq26标记存在连锁；这两个CMT家系的最大多点对数优势得分为1.81，位于DXS144。这些结果提示存在异质性。包括两个区域（Xp22.2和Xq26）的联合分析提供了反对同质性的证据（χ2 = 9.十二，P小于0.005）。
