Intragenic KANSL1 mutations and chromosome 17q21.31 deletions: broadening the clinical spectrum and genotype-phenotype correlations in a large cohort of patients

Marcella Zollino; Giuseppe Marangi; Emanuela Ponzi; Daniela Orteschi; Stefania Ricciardi; Serena Lattante; Marina Murdolo; Domenica Immacolata Battaglia; Ilaria Contaldo; Eugenio Maria Mercuri; Maria Chiara Stefanini; Roseline Caumes; Patrick Edery; Massimiliano Rossi; Maria Piccione; Giovanni Corsello; Matteo Della Monica; Francesca Scarano; Manuela Priolo; Mattia Gentile; Giuseppe Zampino; Raymon Vijzelaar; Omar Abdulrahman; Anita Rauch; Beatrice Oneda; Matthew A. Deardorff; Sulagna C. Saitta; Marni J. Falk; Holly Dubbs; Elaine Zackai

doi:10.1136/jmedgenet-2015-103184

Intragenic KANSL1 mutations and chromosome 17q21.31 deletions: broadening the clinical spectrum and genotype-phenotype correlations in a large cohort of patients

Marcella Zollino, Giuseppe Marangi, Emanuela Ponzi, Daniela Orteschi, Stefania Ricciardi, Serena Lattante, Marina Murdolo, Domenica Immacolata Battaglia, Ilaria Contaldo, Eugenio Maria Mercuri, Maria Chiara Stefanini, Roseline Caumes, Patrick Edery, Massimiliano Rossi, Maria Piccione, Giovanni Corsello, Matteo Della Monica, Francesca Scarano, Manuela Priolo, Mattia GentileGiuseppe Zampino, Raymon Vijzelaar, Omar Abdulrahman, Anita Rauch, Beatrice Oneda, Matthew A. Deardorff, Sulagna C. Saitta, Marni J. Falk, Holly Dubbs, Elaine Zackai

Risultato della ricerca: Contributo in rivista › Articolo in rivista › peer review

21 Citazioni (Scopus)

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.

Lingua originale	English
pagine (da-a)	804-814
Numero di pagine	11
Rivista	Journal of Medical Genetics
Volume	52
DOI	https://doi.org/10.1136/jmedgenet-2015-103184
Stato di pubblicazione	Pubblicato - 2015

Keywords

17q21.31 deletion
KANSL1 mutation
clinical heterogeneity
genotype-phenotype correlations

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10.1136/jmedgenet-2015-103184

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Zollino, M., Marangi, G., Ponzi, E., Orteschi, D., Ricciardi, S., Lattante, S., Murdolo, M., Battaglia, D. I., Contaldo, I., Mercuri, E. M., Stefanini, M. C., Caumes, R., Edery, P., Rossi, M., Piccione, M., Corsello, G., Monica, M. D., Scarano, F., Priolo, M., ... Zackai, E. (2015). Intragenic KANSL1 mutations and chromosome 17q21.31 deletions: broadening the clinical spectrum and genotype-phenotype correlations in a large cohort of patients. Journal of Medical Genetics, 52, 804-814. https://doi.org/10.1136/jmedgenet-2015-103184

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title = "Intragenic KANSL1 mutations and chromosome 17q21.31 deletions: broadening the clinical spectrum and genotype-phenotype correlations in a large cohort of patients",

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.",

keywords = "17q21.31 deletion, KANSL1 mutation, clinical heterogeneity, genotype-phenotype correlations, 17q21.31 deletion, KANSL1 mutation, clinical heterogeneity, genotype-phenotype correlations",

author = "Marcella Zollino and Giuseppe Marangi and Emanuela Ponzi and Daniela Orteschi and Stefania Ricciardi and Serena Lattante and Marina Murdolo and Battaglia, {Domenica Immacolata} and Ilaria Contaldo and Mercuri, {Eugenio Maria} and Stefanini, {Maria Chiara} and Roseline Caumes and Patrick Edery and Massimiliano Rossi and Maria Piccione and Giovanni Corsello and Monica, {Matteo Della} and Francesca Scarano and Manuela Priolo and Mattia Gentile and Giuseppe Zampino and Raymon Vijzelaar and Omar Abdulrahman and Anita Rauch and Beatrice Oneda and Deardorff, {Matthew A.} and Saitta, {Sulagna C.} and Falk, {Marni J.} and Holly Dubbs and Elaine Zackai",

year = "2015",

doi = "10.1136/jmedgenet-2015-103184",

language = "English",

volume = "52",

pages = "804--814",

journal = "Journal of Medical Genetics",

issn = "0022-2593",

publisher = "BMJ / British Medical Journal Publishing Group:PO Box 299, London WC1H 9TD United Kingdom:011 44 20 73836270, EMAIL: [email protected], INTERNET: http://www.bmjpg.com/bmj, Fax: 011 44 20 73836402",

}

Zollino, M , Marangi, G, Ponzi, E, Orteschi, D, Ricciardi, S, Lattante, S, Murdolo, M, Battaglia, DI, Contaldo, I, Mercuri, EM, Stefanini, MC, Caumes, R, Edery, P, Rossi, M, Piccione, M, Corsello, G, Monica, MD, Scarano, F, Priolo, M, Gentile, M, Zampino, G, Vijzelaar, R, Abdulrahman, O, Rauch, A, Oneda, B, Deardorff, MA, Saitta, SC, Falk, MJ, Dubbs, H & Zackai, E 2015, 'Intragenic KANSL1 mutations and chromosome 17q21.31 deletions: broadening the clinical spectrum and genotype-phenotype correlations in a large cohort of patients', Journal of Medical Genetics, vol. 52, pagg. 804-814. https://doi.org/10.1136/jmedgenet-2015-103184

Intragenic KANSL1 mutations and chromosome 17q21.31 deletions: broadening the clinical spectrum and genotype-phenotype correlations in a large cohort of patients. / Zollino, Marcella ; Marangi, Giuseppe; Ponzi, Emanuela et al.
In: Journal of Medical Genetics, Vol. 52, 2015, pag. 804-814.

Risultato della ricerca: Contributo in rivista › Articolo in rivista › peer review

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 -

Intragenic KANSL1 mutations and chromosome 17q21.31 deletions: broadening the clinical spectrum and genotype-phenotype correlations in a large cohort of patients

Abstract

Keywords

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