Intragenic KANSL1 mutations and chromosome 17q21.31 deletions: broadening the clinical spectrum and genotype-phenotype correlations in a large cohort of patients
- Autori: Zollino, M.; Marangi, G.; Ponzi, E.; Orteschi, D.; Ricciardi, S.; Lattante, S.; Murdolo, M.; Battaglia, D.; Contaldo, I.; Mercuri, E.; Stefanini, M.; Caumes, R.; Edery, P.; Rossi, M.; Piccione, M.; Corsello, G.; Della Monica, M.; Scarano, F.; Priolo, M.; Gentile, M.; Zampino, G.; Vijzelaar, R.; Abdulrahman, O.; Rauch, A.; Oneda, B.; Deardorff, M.; Saitta, S.; Falk, M.; Dubbs, H.; Zackai, E.
- Anno di pubblicazione: 2015
- Tipologia: Articolo in rivista (Articolo in rivista)
- OA Link: http://hdl.handle.net/10447/158416
Abstract
The 17q21.31 deletion syndrome phenotype can be caused by either chromosome deletions or point mutations in the KANSL1 gene. To date, about 60 subjects with chromosome deletion and 4 subjects with point mutation in KANSL1 have been reported. Prevalence of chromosome deletions compared with point mutations, genotype-phenotype correlations and phenotypic variability have yet to be fully clarified.