MLL2 mosaic mutations and intragenic deletion-duplications in patients with Kabuki syndrome
S Banka, E Howard, S Bunstone, Ke Chandler, B Kerr, K Lachlan, S McKee, Sg Mehta, Alt Tavares, J Tolmie and D Donnai
Department of Genetic Medicine, St Mary’s Hospital, Manchester Academic Health Sciences Centre (MAHSC), University of Manchester, Manchester, UK.
Clin Genet 83:5, 467-71
In patients without MLL2 mutations, genetic heterogeneity has been a promising explanation, as confirmed by deletions involving the KDM6A gene. In other MLL2-negative cases , the development of KS may be attributed to deep-intronic mutations, large intragenic deletions or duplications or changes affecting the regulatory elements.
The authors have recommended that clinicians utilize MLL2 sequencing followed by dosage analysis of MLL2 and KDM6A as the molecular genetic approach.
pubmed id 22901312
us nlm id 0253664