Journal
JOURNAL OF HUMAN GENETICS
Volume 54, Issue 5, Pages 304-309Publisher
NATURE PUBLISHING GROUP
DOI: 10.1038/jhg.2009.30
Keywords
Kabuki syndrome; microdeletion; molecular karyotyping; mutation screening; Niikawa-Kuroki syndrome
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Funding
- Ministry of Education, Sports, Culture, Science and Technology of Japan
- SORST [17019055]
- Japan Science and Technology Agency (JST) [19390095]
- Ministry of Health, Labor and Welfare
- Grants-in-Aid for Scientific Research [19390095] Funding Source: KAKEN
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The Kabuki syndrome (KS, OMIM 147920), also known as the Niikawa-Kuroki syndrome, is a multiple congenital anomaly/mental retardation syndrome characterized by a distinct facial appearance. The cause of KS has been unidentified, even by whole-genome scan with array comparative genomic hybridization (CGH). In recent years, high-resolution oligonucleotide array technologies have enabled us to detect fine copy number alterations. In 17 patients with KS, molecular karyotyping was carried out with GeneChip 250K NspI array (Affymetrix) and Copy Number Analyser for GeneChip (CNAG). It showed seven copy number alterations, three deleted regions and four duplicated regions among the patients, with the exception of registered copy number variants (CNVs). Among the seven loci, only the region of 9q21.11-q21.12 (similar to 1.27 Mb) involved coding genes, namely, transient receptor potential cation channel, subfamily M, member 3 (TRPM3), Kruppel-like factor 9 (KLF9), structural maintenance of chromosomes protein 5 (SMC5) and MAM domain containing 2 (MAMDC2). Mutation screening for the genes detected 10 base substitutions consisting of seven single-nucleotide polymorphisms (SNPs) and three silent mutations in 41 patients with KS. Our study could not show the causative genes for KS, but the locus of 9q21.11-q21.12, in association with a cleft palate, may contribute to the manifestation of KS in the patient. As various platforms on oligonucleotide arrays have been developed, higher resolution platforms will need to be applied to search tiny genomic rearrangements in patients with KS. Journal of Human Genetics (2009) 54, 304-309; doi:10.1038/jhg.2009.30; published online 3 April 2009
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