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Title

MLL2 mutation detection in 86 patients with Kabuki syndrome: a genotype-phenotype study

Authors
van Bon, Bw
Hoischen, A
Published in Clinical Genetics. 2013, vol. 84, no. 6, p. 539-545
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.
Identifiers
PMID: 23320472
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Research group Pathologie Moléculaire de la Trisomie 21 et le Génome Humain (248)
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MAKRYTHANASIS, Periklis et al. MLL2 mutation detection in 86 patients with Kabuki syndrome: a genotype-phenotype study. In: Clinical Genetics, 2013, vol. 84, n° 6, p. 539-545. https://archive-ouverte.unige.ch/unige:34633

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Deposited on : 2014-03-05

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