Mutation spectrum of MLL2 in a cohort of kabuki syndrome patients View Full Text


Ontology type: schema:ScholarlyArticle      Open Access: True


Article Info

DATE

2011-06-09

AUTHORS

Lucia Micale, Bartolomeo Augello, Carmela Fusco, Angelo Selicorni, Maria N Loviglio, Margherita Cirillo Silengo, Alexandre Reymond, Barbara Gumiero, Federica Zucchetti, Ester V D'Addetta, Elga Belligni, Alessia Calcagnì, Maria C Digilio, Bruno Dallapiccola, Francesca Faravelli, Francesca Forzano, Maria Accadia, Aldo Bonfante, Maurizio Clementi, Cecilia Daolio, Sofia Douzgou, Paola Ferrari, Rita Fischetto, Livia Garavelli, Elisabetta Lapi, Teresa Mattina, Daniela Melis, Maria G Patricelli, Manuela Priolo, Paolo Prontera, Alessandra Renieri, Maria A Mencarelli, Gioacchino Scarano, Matteo della Monica, Benedetta Toschi, Licia Turolla, Alessandra Vancini, Adriana Zatterale, Orazio Gabrielli, Leopoldo Zelante, Giuseppe Merla

ABSTRACT

BACKGROUND: Kabuki syndrome (Niikawa-Kuroki syndrome) is a rare, multiple congenital anomalies/mental retardation syndrome characterized by a peculiar face, short stature, skeletal, visceral and dermatoglyphic abnormalities, cardiac anomalies, and immunological defects. Recently mutations in the histone methyl transferase MLL2 gene have been identified as its underlying cause. METHODS: Genomic DNAs were extracted from 62 index patients clinically diagnosed as affected by Kabuki syndrome. Sanger sequencing was performed to analyze the whole coding region of the MLL2 gene including intron-exon junctions. The putative causal and possible functional effect of each nucleotide variant identified was estimated by in silico prediction tools. RESULTS: We identified 45 patients with MLL2 nucleotide variants. 38 out of the 42 variants were never described before. Consistently with previous reports, the majority are nonsense or frameshift mutations predicted to generate a truncated polypeptide. We also identified 3 indel, 7 missense and 3 splice site. CONCLUSIONS: This study emphasizes the relevance of mutational screening of the MLL2 gene among patients diagnosed with Kabuki syndrome. The identification of a large spectrum of MLL2 mutations possibly offers the opportunity to improve the actual knowledge on the clinical basis of this multiple congenital anomalies/mental retardation syndrome, design functional studies to understand the molecular mechanisms underlying this disease, establish genotype-phenotype correlations and improve clinical management. More... »

PAGES

38-38

Journal

TITLE

Orphanet Journal of Rare Diseases

ISSUE

1

VOLUME

6

Author Affiliations

  • Medical Genetics Unit, IRCCS Casa Sollievo della Sofferenza Hospital, 71013 San Giovanni Rotondo, Italy
  • Ambulatorio Genetica Clinica Pediatrica, Clinica Pediatrica Università Milano Bicocca, Fondazione MBBM AOS Gerardo Monza, Italy
  • Dipartimento di Scienze Pediatriche, Università di Torino, Italy
  • Center for Integrative Genomics, University of Lausanne, Lausanne, Switzerland
  • Medical Genetics, Bambino Gesù Paediatric Hospital, IRCCS, Rome, Italy
  • Division of Medical Genetics, Galliera Hospital, Genova, Italy
  • Laboratory of Medical Genetics, "V.Fazzi" Hospital, Lecce, Italy
  • Medical Genetics Unit, St. Bassiano Hospital, Bassano del Grappa, Italy
  • Dipartimento Pediatria, Genetica Clinica, Padova, Italy
  • Department of Genetics, Institute of Child Health, "Aghia Sophia" Children's Hospital, Athens, Greece
  • Dipartimento Materno Infantile, Università degli studi Modena, Italy
  • U.O. Malattie Metaboliche PO Giovanni XXIII, AOU Policlinico Consorziale, Bari, Italy
  • Clinical Genetics Unit, S.Maria Nuova Hospital Reggio Emilia, Italy
  • Medical Genetics Unit, Children's Hospital Anna Meyer, Firenze, Italy
  • Genetica Medica, Università di Catania, Catania, Italy
  • Area Funzionale di Genetica Clinica Pediatrica, Dipartimento di Pediatria, Università degli Studi di Napoli "Federico II", Italy
  • Biologia Molecolare e Citogenetica, Diagnostica e Ricerca San Raffaele, Milano, Italy
  • Unita' Operativa di Genetica Medica, Azienda Ospedaliera Bianchi-Melacrino-Morelli, Reggio Calabria, Italy
  • Medical Genetics Unit, University of Perugia, "S. Maria della Misericordia" Hospital, Perugia, Italy
  • Medical Genetics Section, Biotechnology Department, University of Siena, Italy. UOC Genetica Medica, Dipartimento di Emergenza Urgenza e dei Servizi Diagnostici, Azienda Ospedaliera Universitaria Senese, Siena, Italy
  • UOC Genetica Medica, Azienda Ospedaliera RN "G.Rummo", Benevento, Italy
  • Medical Genetics Section, Cytogenetics and Molecular Genetics Unit, Santa Chiara University Hospital, Pisa, Italy
  • Ambulatorio di Genetica Medica, Azienda ULSS 9, Treviso, Italy
  • Newborn Intensive Care Unit, Maggiore Hospital, Bologna, Italy
  • Servizio di Genetica, ASL NAPOLI 1 P.S.I. Elena d'Aosta Napoli, Italy
  • Stituto di Scienze Materno-Infantili, Università Politecnica delle Marche, Ancona, Italy
  • Identifiers

    URI

    http://scigraph.springernature.com/pub.10.1186/1750-1172-6-38

    DOI

    http://dx.doi.org/10.1186/1750-1172-6-38

    DIMENSIONS

    https://app.dimensions.ai/details/publication/pub.1050309081

    PUBMED

    https://www.ncbi.nlm.nih.gov/pubmed/21658225


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