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Kabuki make‐up (Niikawa‐Kuroki) syndrome: A study of 62 patients

1988; Wiley; Volume: 31; Issue: 3 Linguagem: Inglês

10.1002/ajmg.1320310312

1096-8628

Norio Niikawa, Yoshikazu Kuroki, Tadashi Kajii, Nobuo Matsuura, Satoshi Ishikiriyama, Hidefumi Tonoki, Nobuyoshi Ishikawa, Yutaka Yamada, Masafumi Fujita, Hidehiko Umemoto, Yoshihiko Iwama, Ikuko Kondoh, Yoshimitsu Fukushima, Yasushi Nako, Ichiro Matsui, Tatsuhiko Urakami, Sekoiya Aritaki, Michiko Hara, Yasuyuki Suzuki, Hiroyuki Chyo, Yoshitsugu Sugio, Tomoko Hasegawa, Tsutomu Yamanaka, Ryuichi Tsukino, Akira Yoshida, Naoki Nomoto, Satomi Kawahito, Ryozo Aihara, Shigeki Toyota, Atsushi Ieshima, Hiromu Funaki, K Ishitobi, Satoshi Ogura, Toshiaki Furumae, Makoto Yoshino, Yoshiro Tsuji, Tatsuro Kondoh, Tadashi Matsumoto, Kyohko Abe, Naoki Harada, Teruhisa Miike, Shozo Ohdo, Kenji Naritomi, A. K. Abushwereb, O. H. Braun, E. E. Schmid, John M. Opitz, James F. Reynolds,

Cancer Genomics and Diagnostics

Abstract 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 Yp 11.2 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 × 10 6 .