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|Title:||MLL2 mutation detection in 86 patients with Kabuki syndrome: a genotype-phenotype study|
van Bon, B.
del Campo, M.
|Citation:||Clinical Genetics: an international journal of genetics and molecular medicine, 2013; 84(6):539-545|
|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.|
|Appears in Collections:||Aurora harvest 8|
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