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Lack of C20orf133 and FLRT3 mutations in 43 patients with Kabuki syndrome in Japan

¹ Departments of Human Genetics, Nagasaki University Graduate School of Biomedical Sciences, Nagasaki, Japan
² Departments of Pediatrics, Nagasaki University Graduate School of Biomedical Sciences, Nagasaki, Japan
³ Division of Medical Genetics, Saitama Children’s Medical Center, Iwatsuki, Japan
⁴ Division of Medical Genetics, Kanagawa Children’s Medical Center, Yokohama, Japan
⁵ Department of Pediatrics, Tenshi Hospital, Sapporo, Japan
⁶ Department of Pediatrics, Dokkyo University School of Medicine Koshigaya Hospital, Koshigaya, Japan
⁷ Department of Planning and Research, Osaka Medical Center and Research Institute for Maternal and Child health, Osaka, Japan
⁸ Department of Pediatrics, Yamagata University School of Medicine, Yamagata, Japan
⁹ Department of Medical Genetics, Shinshu University School of Medicine, Matsumoto, Japan
¹⁰ Department of Medical Genetics, University of the Ryukyus, Nishihara, Japan
¹¹ Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan
¹² Research Institute of Personalized Health Sciences, Health Sciences University of Hokkaido, Tobetsu, Japan
¹³ Solution Oriented Research for Science and Technology (SORST), Japan Science and Technology Agency (JST), Tokyo, Japan

Correspondence to:
Dr K-i Yoshiura, Department of Human Genetics, Nagasaki University Graduate School of Biomedical Sciences, Sakamoto 1-12-4, Nagasaki 852-8523, Japan; kyoshi@nagasaki-u.ac.jp]

Received 23 February 2008
Revised version received 5 March 2008
Accepted 6 March 2008

The first 150 words of the full text of this article appear below.

Kabuki syndrome (KS, OMIM 147920 [OMIM] ), also known as Niikawa–Kuroki syndrome, is a multiple congenital anomalies/mental retardation (MCA/MR) syndrome characterised by a peculiar facial appearance, skeletal abnormalities, joint hypermobility, dermatoglyphic abnormalities, postnatal growth retardation, recurrent otitis media and occasional visceral anomalies. Although some studies have ruled out several loci from the candidacy for KS, any putative disease gene loci or candidate genes remain unidentified.

In a recent issue of the journal, Maas et al¹ reported that exon 5 of the C20orf133 gene at 20p12.1 was disrupted by a 250 kb de novo microdeletion in a patient with KS; they also screened for mutations in C20orf133 and FLRT3 (a nested gene located within intron 3 of C20orf133) in 19 additional patients with KS, but failed to detect such mutations or deletions in any of them. It remains unclear whether the two genes are responsible for the pathogenesis of KS, . . . [Full text of this article]