Article
Characterization of a novel transcript of the EHMT1 gene reveals important diagnostic implications for Kleefstra syndrome.
Human mutation - 1 Jul 2011
Nillesen Willy M, Yntema Helger G, Moscarda Marco, Verbeek Nienke E, Wilson Louise C, Cowan Frances, Schepens Marga, Raas-Rothschild Annick, Gafni-Weinstein Orly, Zollino Marcella, Vijzelaar Raymon, Neri Giovanni, Nelen Marcel, Bokhoven Hans van, Giltay Jacques, Kleefstra Tjitske
Abstract excerpt
The core phenotype of Kleefstra syndrome (KS) is characterized by intellectual disability, childhood hypotonia, and a characteristic facial appearance. This can be caused by either submicroscopic 9q34 deletions or loss of function mutations of the EHMT1 gene. Remarkably, in three patients with a clinical suspicion of KS, molecular cytogenetic analysis revealed an interstitial 9q34 microdeletion proximal to the...
Topics
- 5' Untranslated Regions
- Adult
- Cells, Cultured
- Child
- Child, Preschool
- Chromosomes, Human, Pair 9
- Comparative Genomic Hybridization
- Exons
- Facies