| MLL2 mutation detection in 86 patients with Kabuki syndrome: a genotype-phenotype study. | |
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MedLine Citation:
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PMID: 23320472 Owner: NLM Status: Publisher |
Abstract/OtherAbstract:
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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 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 to 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 4 splice-site mutations, 34 of which were novel. In 5 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-value <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. |
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Authors:
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Periklis Makrythanasis; Bregje W van Bon; Marloes Steehouwer; Benjamín Rodríguez-Santiago; Michael Simpson; Patricia Dias; Britt Marie Anderlid; Peer Arts; Meenakshi Bhat; Bartolomeo Augello; Elisa Biamino; Ernie Mhf Bongers; Miguel Del Campo; Isabel Cordeiro; Anna M Cueto-González; Ivon Cuscó; Charu Deshpande; Elena Frysira; Louise Izatt; Raquel Flores; Enrique Galán; Blanca Gener; Christian Gilissen; Susanne M Granneman; Juliane Hoyer; Helger G Yntema; C Marleen Kets; David A Koolen; Carlo L Marcelis; Ana Medeira; Lucia Micale; Shehla Mohammed; Sonja A de Munnik; Ann Nordgren; Stavroula Psoni15 Willie Reardon; Nicole Revencu; Tony Roscioli; Martina Ruiterkamp-Versteeg; Heloísa G Santos; Jacqueline Schoumans; Janneke Hm Schuurs-Hoeijmakers; Margherita Cirillo Silengo; Laura Toledo; Teresa Vendrell; Ineke van der Burgt; Bart van Lier; Christiane Zweier; Alexandre Reymond; Richard C Trembath; Luis Perez-Jurado; Juliette Dupont; Bert Ba de Vries; Han G Brunner; Joris A Veltman; Giuseppe Merla; Stylianos E Antonarakis; Alexander Hoischen |
Publication Detail:
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Type: JOURNAL ARTICLE Date: 2013-1-16 |
Journal Detail:
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Title: Clinical genetics Volume: - ISSN: 1399-0004 ISO Abbreviation: Clin. Genet. Publication Date: 2013 Jan |
Date Detail:
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Created Date: 2013-1-16 Completed Date: - Revised Date: - |
Medline Journal Info:
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Nlm Unique ID: 0253664 Medline TA: Clin Genet Country: - |
Other Details:
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Languages: ENG Pagination: - Citation Subset: - |
Copyright Information:
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© 2013 John Wiley & Sons A/S. |
Affiliation:
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Departement of Genetic Medicine and Development, University of Geneva, Geneva, Switzerland. |
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From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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