KABUKI MAKE-UP (NIIKAWA-KUROKI) SYNDROME - A STUDY OF 62 PATIENTS
KABUKI MAKE-UP (NIIKAWA-KUROKI) SYNDROME - A STUDY OF 62 PATIENTS
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DOI：
10.1002/ajmg.1320310312
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发表时间：
1988-11-01
期刊：
影响因子：
--
通讯作者：
SCHMID, E
中科院分区：
文献类型：
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作者：
NIIKAWA, N;KUROKI, Y;SCHMID, E
这62例歌舞伎化妆综合征（KMS）患者被收集在33个机构的合作研究中，并进行了临床，细胞遗传学和流行病学分析，以描绘KMS的表型谱，并了解其原因。在所观察的各种表现中，大多数患者具有以下五个主要表现：1）以下眼睑外翻为特征的特殊面部（100%），弓形眉毛，稀疏或分散的外侧三分之一，鼻尖凹陷，和突出的耳朵; 2）骨骼异常（92%），包括短指V和脊柱畸形，有或没有矢状嵴椎裂; 3）皮纹异常（93%），包括尺神经环和小鱼际神经环图案增加，缺少指三角c和/或d，以及存在指尖垫; 4）轻度至中度智力迟钝（92%）;和5）出生后生长缺陷（83%）。因此，KMS表型谱的核心是相当狭窄和明确的。还观察到许多其他不一致的异常现象。其中重要的是女婴的早期乳房发育（23%）和先天性心脏病（31%），如单心室伴共同心房、室间隔缺损、房间隔缺损、法洛四联症、主动脉缩窄、动脉导管未闭、主动脉瘤、大血管转位和右束分支传导阻滞。在62名KMS患者中，有58名是日本人，这表明该综合征在日本相当常见。据估计，其在日本新生儿中的患病率为1/32，000。本研究KMS病例均为散发，性别比例均匀，与胎次无相关性，父母间血缘关系不高，未发现母亲在孕早期服用过致病药物。62名患者中有3名患者存在Y染色体异常，可能涉及共同断裂点（Yp11.2）。这可能表明另一种可能性，即，KMS基因位于Yp11.2上，并且该疾病是假常染色体显性的。这些发现与常染色体显性遗传病相一致，在这种病中，每个患者都代表一个新的突变。突变率计算为15.6 × 10 - 6。106.
These 62 patients with the Kabuki make-up syndrome (KMS) were collected in a collaborative study among 33 institutions and analyzed clinically, cytogenetically, and epidemiologically to delineate the phenotypic spectrum of KMS and to learn about its cause. Among various manifestations observed, most patients had the following five cardinal manifestations: 1) a peculiar face (100%) characterized by eversion of the lower lateral eyelid; arched eyebrows, with sparse or dispersed lateral one-third; a depressed nasal tip; and prominent ears; 2) skeletal anomalies (92%), including brachydactyly V and a deformed spinal column, with or without sagittal cleft vertebrae; 3) dermatoglyphic abnormalities (93%), including increased digital ulnar loop and hypothenar loop patterns, absence of the digital triradius c and/or d, and presence of fingertip pads; 4) mild to moderate mental retardation (92%); and 5) postnatal growth deficiency (83%). Thus the core of the phenotypic spectrum of KMS is rather narrow and clearly defined. Many other inconsistent anomalies were observed. Important among them were early breast development in infant girls (23%), and congenital heart defects (31%), such as a single ventricle with a common atrium, ventricular septal defect, atrial septal defect, tetralogy of Fallot, coarctation of aorta, patent ductus arteriosus, aneurysm of aorta, transposition of great vessels, and right bundle branch block. Of the 62 KMS patients, 58 were Japanese, an indication that the syndrome is fairly common in Japan. It was estimated that its prevalence in Japanese newborn infants is 1/32,000. All the KMS cases in this study were sporadic, the sex ratio was even, there was no correlation with birth order, the consanguinity rate among the parents was not high, and no incriminated agent was found that was taken by the mothers during early pregnancy. Three of the 62 patients had a Y chromosome abnormality involving a possible common breakpoint (Yp11.2). This could indicate another possibility, i.e., that the KMS gene is on Yp11.2 and that the disease is pseudoautosomal dominant. These findings are compatible with an autosomal dominant disorder in which every patient represents a fresh mutation. The mutation rate was calculated at 15.6 .times. 106.