TY - JOUR
T1 - Intragenic KANSL1 mutations and chromosome 17q21.31 deletions: broadening the clinical spectrum and genotype-phenotype correlations in a large cohort of patients
AU - Zollino, Marcella
AU - Marangi, Giuseppe
AU - Ponzi, Emanuela
AU - Orteschi, Daniela
AU - Ricciardi, Stefania
AU - Lattante, Serena
AU - Murdolo, Marina
AU - Battaglia, Domenica Immacolata
AU - Contaldo, Ilaria
AU - Mercuri, Eugenio Maria
AU - Stefanini, Maria Chiara
AU - Caumes, Roseline
AU - Edery, Patrick
AU - Rossi, Massimiliano
AU - Piccione, Maria
AU - Corsello, Giovanni
AU - Monica, Matteo Della
AU - Scarano, Francesca
AU - Priolo, Manuela
AU - Gentile, Mattia
AU - Zampino, Giuseppe
AU - Vijzelaar, Raymon
AU - Abdulrahman, Omar
AU - Rauch, Anita
AU - Oneda, Beatrice
AU - Deardorff, Matthew A.
AU - Saitta, Sulagna C.
AU - Falk, Marni J.
AU - Dubbs, Holly
AU - Zackai, Elaine
PY - 2015
Y1 - 2015
N2 - 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.
AB - 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.
KW - 17q21.31 deletion
KW - KANSL1 mutation
KW - clinical heterogeneity
KW - genotype-phenotype correlations
KW - 17q21.31 deletion
KW - KANSL1 mutation
KW - clinical heterogeneity
KW - genotype-phenotype correlations
UR - http://hdl.handle.net/10807/71637
U2 - 10.1136/jmedgenet-2015-103184
DO - 10.1136/jmedgenet-2015-103184
M3 - Article
SN - 0022-2593
VL - 52
SP - 804
EP - 814
JO - Journal of Medical Genetics
JF - Journal of Medical Genetics
ER -