Absence of deletion and duplication of MLL2 and KDM6A genes in a large cohort of patients with Kabuki syndrome

Manuela Priolo, Lucia Micale, Bartolomeo Augello, Carmela Fusco, Federica Zucchetti, Paolo Prontera, Valeria Paduano, Elisa Biamino, Angelo Selicorni, Corrado Mammì, Carmelo Laganà, Leopoldo Zelante, Giuseppe Merla

Research output: Contribution to journalArticle

Abstract

Kabuki syndrome is a rare, multiple congenital anomaly/mental retardation syndrome caused by MLL2 point mutations and KDM6A microdeletions. We screened a large cohort of MLL2 mutation-negative patients for MLL2 and KDM6A exon(s) microdeletion and microduplication. Our assays failed to detect such rearrangements in MLL2 as well as in KDM6A gene. These results show that these genomic events are extremely rare in the Kabuki syndrome, substantiating its genetic heterogeneity and the search for additional causative gene(s).

Original languageEnglish
Pages (from-to)627-629
Number of pages3
JournalMolecular Genetics and Metabolism
Volume107
Issue number3
DOIs
Publication statusPublished - Nov 2012

Keywords

  • Kabuki syndrome
  • KDM6A
  • MLL2
  • MLPA
  • QPCR

ASJC Scopus subject areas

  • Biochemistry
  • Molecular Biology
  • Genetics
  • Endocrinology
  • Endocrinology, Diabetes and Metabolism

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