Please use this identifier to cite or link to this item: http://hdl.handle.net/2440/111558
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Type: Journal article
Title: MLL2 mutation detection in 86 patients with Kabuki syndrome: a genotype-phenotype study
Author: Makrythanasis, P.
van Bon, B.
Steehouwer, M.
Rodríguez-Santiago, B.
Simpson, M.
Dias, P.
Anderlid, B.
Arts, P.
Bhat, M.
Augello, B.
Biamino, E.
Bongers, E.
del Campo, M.
Cordeiro, I.
Cueto-González, A.
Cuscó, I.
Deshpande, C.
Frysira, E.
Izatt, L.
Flores, R.
et al.
Citation: Clinical Genetics, 2013; 84(6):539-545
Publisher: Wiley-Blackwell
Issue Date: 2013
ISSN: 0009-9163
1399-0004
Statement of
Responsibility: 
P. Makrythanasis, B. W. van Bon, M. Steehouwer, B. Rodríguez-Santiago, M. Simpson … Luis A. Perez-Jurado … et al.
Abstract: Recently, pathogenic variants in the MLL2 gene were identified as the most common cause of Kabuki (Niikawa-Kuroki) syndrome (MIM#147920). To further elucidate the genotype-phenotype correlation, we studied a large cohort of 86 clinically defined patients with Kabuki syndrome (KS) for mutations in MLL2. All patients were assessed using a standardized phenotype list and all were scored using a newly developed clinical score list for KS (MLL2-Kabuki score 0-10). Sequencing of the full coding region and intron-exon boundaries of MLL2 identified a total of 45 likely pathogenic mutations (52%): 31 nonsense, 10 missense and four splice-site mutations, 34 of which were novel. In five additional patients, novel, i.e. non-dbSNP132 variants of clinically unknown relevance, were identified. Patients with likely pathogenic nonsense or missense MLL2 mutations were usually more severely affected (median 'MLL2-Kabuki score' of 6) as compared to the patients without MLL2 mutations (median 'MLL2-Kabuki score' of 5), a significant difference (p < 0.0014). Several typical facial features such as large dysplastic ears, arched eyebrows with sparse lateral third, blue sclerae, a flat nasal tip with a broad nasal root, and a thin upper and a full lower lip were observed more often in mutation positive patients.
Keywords: genotype-phenotype correlation; Kabuki syndrome; MLL2; Niikawa-Kuroki syndrome
Rights: © 2013 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.
RMID: 0030082480
DOI: 10.1111/cge.12081
Grant ID: http://purl.org/au-research/grants/nhmrc/512123
Appears in Collections:Genetics publications

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