Unmasking Kabuki syndrome
Bo¨gershausen N, Wollnik B. Clin Genet 2012. ℀ John Wiley & Sons A/S. Published by Blackwell Publishing Ltd, 2012
The variability in symptoms in patients with suspected KS as well as the genetic heterogeneity of the condition make the diagnostic process a challenge to clinicians. In recent years, however, discovery of the MLL2 gene as the major causative factor in KS has helped researchers knowledge and understanding of the molecular genetic basis of the condition, and subsequently, has improved the diagnostic process for KS.
Standard molecular genetic testing, i.e. sequence analysis and mutation screening, for the MLL2 gene is a reasonable strategic algorithm to be included in the diagnostic process of KS. In patients without MLL2 mutations, microarray-based comparative genomic hybridization (array-CGH) may be performed as the next step. Multiplex Ligation-dependent Probe Amplification (MLPA) for KMT2D and KDM6A may also be included as a clinical and molecular diagnostic tool.
For further information on molecular genetic testing facilities that may be available, visit http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/clinical_disease_id/216289.