Bialer M G, Lawrence L, Stevenson R E, Silverberg G, Williams M K, Arena J F, Lubs H A, Schwartz C E
Department of Pediatrics, North Shore University Hospital-Cornell University Medical College, Manhasset, NY 11030.
Am J Med Genet. 1992;43(1-2):491-7. doi: 10.1002/ajmg.1320430173.
We restudied a family with X-linked mental retardation (XLMR) originally reported in abstract form by Davis et al. [1981]. All 8 living affected males were examined. Characteristics included severe mental retardation, spastic paraplegia, dysarthria, muscle wasting, scoliosis, broad shallow pectus excavatum, long face, large ears with minor modeling anomalies, foot deformities, joint contractures, and neck drop. Stature, OFC, testicular volume, high resolution chromosome and fragile X studies, and plasma amino acids were all normal. Their manifestations closely resemble those of a large family with XLMR originally reported by Allan et al. [1944] and restudied by Stevenson et al. [1990]. This condition has been termed the Allan-Herndon-Dudley syndrome (AHDS). As AHDS has been mapped to Xq21, mapping studies were undertaken to determine if this family maps to the same location. These studies demonstrate tight linkage to Xq21, with a maximum lod score of 2.88 obtained with probe pX65H7 (DXS72). Multipoint analysis located the mutant gene quite close to pX65H7 (multipoint Z = 4.14), slightly more proximal in Xq21 than was suggested by the data from the original AHDS family. It appears likely that this family is the second reported family with AHDS.
我们重新研究了一个患有X连锁智力迟钝（XLMR）的家系，该家系最初由戴维斯等人[1981年]以摘要形式报道。对所有8名在世的患病男性进行了检查。其特征包括严重智力迟钝、痉挛性截瘫、构音障碍、肌肉萎缩、脊柱侧凸、宽而浅的漏斗胸、长脸、耳朵大且有轻微形态异常、足部畸形、关节挛缩和垂颈。身高、头围、睾丸体积、高分辨率染色体和脆性X研究以及血浆氨基酸均正常。他们的表现与艾伦等人[1944年]最初报道并由史蒂文森等人[1990年]重新研究的一个患有XLMR的大家系非常相似。这种病症被称为艾伦 - 赫恩登 - 达德利综合征（AHDS）。由于AHDS已被定位到Xq21，因此进行了定位研究以确定这个家系是否也定位到相同位置。这些研究表明与Xq21紧密连锁，使用探针pX65H7（DXS72）获得的最大对数优势得分为2.88。多点分析将突变基因定位在非常靠近pX65H7的位置（多点Z = 4.14），在Xq21中比最初AHDS家系的数据所提示的位置稍近端一些。这个家系似乎是第二个报道的患有AHDS的家系。
