Dominant inheritance of Kabuki make-up syndrome

• Published in: American journal of medical genetics Vol. 73; no. 1; pp. 19 - 23
• Main Authors: Tsukahara, Masato, Kuroki, Yoshikazu, Imaizumi, Kiyoshi, Miyazawa, Yoichiro, Matsuo, Kiyosato
• Format: Journal Article
• Language: English
• Published: New York Wiley Subscription Services, Inc., A Wiley Company 28-11-1997; Wiley-Liss
• Subjects: Abnormalities, Multiple - genetics; Abnormalities, Multiple - physiopathology; Adult; Biological and medical sciences; Child, Preschool; Complex syndromes; dominant inheritance; familial occurrence; Female; Genes, Dominant; Humans; Infant; Japan; Kabuki make-up syndrome; Medical genetics; Medical sciences; Syndrome; Japan; Human; Stomatology; Family study; Niikawa Kuroki syndrome; Kabuki make-up syndrome; Dysmorphic facies; Gene expression; Genetic determinism; Genetic disease; Case study; Phenotype; Autosomal character; Dominant character; Complex syndrome
• ISSN: 0148-7299; 1096-8628
• DOI: 10.1002/(SICI)1096-8628(19971128)73:1<19::AID-AJMG5>3.0.CO;2-K

We report on a total of 4 individuals in 2 families with Kabuki make‐up syndrome. In family 1, the proposita, a 2 4/12‐year‐old girl and her mother had typical Kabuki make‐up syndrome. The proposita also had early breast development. In family 2, the proposita, a 6‐month‐old girl and her mother had typical Kabuki make‐up syndrome. The proposita died at age 6 months.
Analysis of 2 families indicates that the condition is an autosomal dominant inheritance with variable expressivity. Am. J. Med. Genet. 73:19–23, 1997. © 1997 Wiley‐Liss, Inc.