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

• Published in: Molecular genetics and metabolism Vol. 107; no. 3; pp. 627 - 629
• Main Authors: Priolo, Manuela, Micale, Lucia, Augello, Bartolomeo, Fusco, Carmela, Zucchetti, Federica, Prontera, Paolo, Paduano, Valeria, Biamino, Elisa, Selicorni, Angelo, Mammì, Corrado, Laganà, Carmelo, Zelante, Leopoldo, Merla, Giuseppe
• Format: Journal Article
• Language: English
• Published: United States Elsevier Inc 01.11.2012
• Subjects: Abnormalities, Multiple - diagnosis; Abnormalities, Multiple - genetics; Adolescent; Child; Child, Preschool; Congenital defects; DNA-Binding Proteins - genetics; Exons; Face - abnormalities; Female; Gene Deletion; Gene Duplication; gene rearrangement; Genetic Heterogeneity; genomics; Hematologic Diseases - diagnosis; Hematologic Diseases - genetics; Histone Demethylases - genetics; Humans; Infant; Kabuki syndrome; KDM6A; Male; Mental retardation; MLL2; MLPA; Neoplasm Proteins - genetics; Nuclear Proteins - genetics; Phenotype; Point mutation; qPCR; Sequence Analysis, DNA; Vestibular Diseases - diagnosis; Vestibular Diseases - genetics; Young Adult; MLL2; Kabuki syndrome; qPCR; MLPA; KDM6A
• ISSN: 1096-7192; 1096-7206
• DOI: 10.1016/j.ymgme.2012.06.019

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). ► Kabuki syndrome is a rare, multiple congenital anomalies/mental retardation syndrome. ► Mutations in the MLL2 gene have been found in approximately 72% of Kabuki patients. ► Partial or complete deletions of KDM6A gene have been identified in three Kabuki patients. ► Lack of MLL2 and KDM6A deletion/duplication in a Kabuki syndrome patient group.