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

Kuniba, Hideo; Yoshiura, Koh-ichiro; Kondoh, Tatsuro; Ohashi, Hirofumi; Kurosawa, Kenji; Tonoki, Hidefumi; Nagai, Toshiro; Okamoto, Nobuhiko; Kato, Mitsuhiro; Fukushima, Yoshimitsu; Kaname, Tadashi; Naritomi, Kenji; Matsumoto, Tadashi; Moriuchi, Hiroyuki; Kishino, Tatsuya; Kinoshita, Akira; Miyake, Noriko; Matsumoto, Naomichi; Niikawa, Norio

doi:10.1038/jhg.2009.30

Cited by 36 publications

(28 citation statements)

References 26 publications

(30 reference statements)

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“…A subset of patients have been extensively studied (Schrander-Stumpel, et al, 2005) and all have undergone routine cytogenetic evaluation showing normal karyotypes at the 550-band resolution levels in the past. The majority of the cohort has also been tested on various SNP-microarray and array-CGH platforms which, with the exception of one patient (Table 1, nr.10) did not result in the identification of any clinically significant de novo CNVs (data not shown) in line with reports by others (Kuniba, et al, 2009). Patient 10 has been reported before, because of a de novo deletion of exon 5 of the MACROD2 gene, identified by array-CGH (Maas et al, 2007).…”

Section: Patient Cohortsupporting

confidence: 71%

MLL2 mutation spectrum in 45 patients with Kabuki syndrome

et al. 2010

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Kabuki Syndrome (KS) is a rare syndrome characterized by intellectual disability and multiple congenital abnormalities, in particular a distinct dysmorphic facial appearance. KS is caused by mutations in the MLL2 gene, encoding an H3K4 histone methyl transferase which acts as an epigenetic transcriptional activator during growth and development. Direct sequencing of all 54 exons of the MLL2 gene in 45 clinically well-defined KS patients identified 34 (75.6%) different mutations. One mutation has been described previously, all others are novel. Clinically, all KS patients were sporadic, and mutations were de novo for all 27 families for which both parents were available. We detected nonsense (n=11), frameshift (n=17), splice site (n=4) and missense (n=2) mutations, predicting a high frequency of absent or non-functional MLL2 protein. Interestingly, both missense mutations located in the C-terminal conserved functional domains of the protein.Phenotypically our study indicated a statistically significant difference in the presence of a distinct facial appearance (p=0.0143) and growth retardation (p=0.0040) when comparing KS patients with an MLL2 mutation compared to patients without a mutation. Our data double the number of MLL2 mutations in KS reported so far and widen the spectrum of MLL2 mutations and disease mechanisms in KS.

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Section: Patient Cohortsupporting

confidence: 71%

MLL2 mutation spectrum in 45 patients with Kabuki syndrome

et al. 2010

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“…Indeed, in some patients, a deletion involving exons 1-9 of TRPM3 has been described (Pagnamenta et al, 2011). TRPM3 might be also involved in the pathogenesis of Kabuki syndrome (OMIM 147920), a congenital mental retardation syndrome characterized distinct facial appearance (the name comes from the facial resemblance of the patients to the stage makeup used in traditional Japanese theater), heart defects, urinary tract anomalies, hearing loss, hypotonia, short stature, joint laxity, and unusual dermatoglyphic patterns (Kuniba et al, 2009).…”

Section: +mentioning

confidence: 99%

Transient Receptor Potential Channels as Drug Targets: From the Science of Basic Research to the Art of Medicine

2014

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“…390 induced insulin secretion from pancreatic islets by activating TRPM3 (Wagner et al, 2008). Highresolution oligonucleotide arrays were used to suggest that TrpM3 is a candidate gene for the Kabuki syndrome, a congenital mental retardation syndrome (Kuniba et al, 2009). …”

Section: A Transient Receptor Potential M1/m3 Subgroupmentioning

confidence: 99%