Molecular karyotyping in 17 patients and mutation screening in 41 patients with Kabuki syndrome.

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概要

• 論文の詳細を見る

• 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 ( approximately 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 03 April 2009.

• Nature Publishing Groupの論文

著者

• Kuniba Hideo

  長崎大学 医歯薬学研究科人類遺伝学

• Kishino T

  Department Of Pediatrics Nagasaki University School Of Medicine

• Kondoh Tatsuro

  長崎大学 医学部小児科

• Kondoh Tatsuro

  長崎大学 看

• Kondoh Tatsuro

  長崎大学 医歯薬学研究科人類遺伝学

• Kondoh Tatsuro

  東北大学 医学部遺伝病学分野

• Yoshiura Koh-ichiro

  長崎大学 医歯薬学総合研究科人類遺伝学

• Yoshiura Koh‐ichiro

  Jst‐sorst Kawaguchi Jpn

• Yoshimura Shuichiro

  長崎大学 医歯薬学総合研究科人類遺伝学

• Kudo T

  Department Of Medical Genetics Tohoku University School Of Medicine

• Kudo Takayuki

  Department Of Otorhinolaryngology Tohoku University School Of Medicine

• Kayashima Tomohiko

  Department Of Human Genetics Nagasaki University School Of Medicine

• Kunugi Hiroshi

  Department Of Mental Disorder Research National Center Of Neurology And Psychiatry

• Yoshiura Koh-ichiro

  Department Of Human Genetics Nagasaki University Graduate School Of Biomedical Sciences

• Kondoh Tatsuro

  Department Of Pediatrics Nagasaki University Graduate School Of Biomedical Sciences

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