Mutations in KANSL1 cause the 17q21.31 microdeletion syndrome phenotype

Marcella Zollino; Daniela Orteschi; Marina Murdolo; Serena Lattante; Domenica Immacolata Battaglia; Maria Chiara Stefanini; Eugenio Maria Mercuri; Pietro Chiurazzi; Giovanni Neri; Giuseppe Marangi

doi:10.1038/ng.2257

Mutations in KANSL1 cause the 17q21.31 microdeletion syndrome phenotype

Marcella Zollino, Daniela Orteschi, Marina Murdolo, Serena Lattante, Domenica Immacolata Battaglia, Maria Chiara Stefanini, Eugenio Maria Mercuri, Pietro Chiurazzi, Giovanni Neri, Giuseppe Marangi

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

95 Citazioni (Scopus)

Abstract

The chromosome 17q21.31 deletion syndrome is a genomic disorder characterized by highly distinctive facial features, moderate-to-severe intellectual disability, hypotonia and friendly behavior. Here, we show that de novo loss-of-function mutations in KANSL1 (also called KIAA1267) cause a full del(17q21.31) phenotype in two unrelated individuals that lack deletion at 17q21.31. These findings indicate that 17q21.31 deletion syndrome is a monogenic disorder caused by haploinsufficiency of KANSL1.

Lingua originale	English
pagine (da-a)	636-638
Numero di pagine	3
Rivista	Nature Genetics
Volume	44
DOI	https://doi.org/10.1038/ng.2257
Stato di pubblicazione	Pubblicato - 2012

Keywords

Abnormalities, Multiple
Adolescent
Child, Preschool
Chromosome Deletion
Chromosomes, Human, Pair 17
Facies
Female
Haploinsufficiency
Humans
Intellectual Disability
Nuclear Proteins
Phenotype
Syndrome

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10.1038/ng.2257

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title = "Mutations in KANSL1 cause the 17q21.31 microdeletion syndrome phenotype",

abstract = "The chromosome 17q21.31 deletion syndrome is a genomic disorder characterized by highly distinctive facial features, moderate-to-severe intellectual disability, hypotonia and friendly behavior. Here, we show that de novo loss-of-function mutations in KANSL1 (also called KIAA1267) cause a full del(17q21.31) phenotype in two unrelated individuals that lack deletion at 17q21.31. These findings indicate that 17q21.31 deletion syndrome is a monogenic disorder caused by haploinsufficiency of KANSL1.",

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author = "Marcella Zollino and Daniela Orteschi and Marina Murdolo and Serena Lattante and Battaglia, {Domenica Immacolata} and Stefanini, {Maria Chiara} and Mercuri, {Eugenio Maria} and Pietro Chiurazzi and Giovanni Neri and Giuseppe Marangi",

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doi = "10.1038/ng.2257",

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TY - JOUR

T1 - Mutations in KANSL1 cause the 17q21.31 microdeletion syndrome phenotype

AU - Zollino, Marcella

AU - Orteschi, Daniela

AU - Murdolo, Marina

AU - Lattante, Serena

AU - Battaglia, Domenica Immacolata

AU - Stefanini, Maria Chiara

AU - Mercuri, Eugenio Maria

AU - Chiurazzi, Pietro

AU - Neri, Giovanni

AU - Marangi, Giuseppe

PY - 2012

Y1 - 2012

N2 - The chromosome 17q21.31 deletion syndrome is a genomic disorder characterized by highly distinctive facial features, moderate-to-severe intellectual disability, hypotonia and friendly behavior. Here, we show that de novo loss-of-function mutations in KANSL1 (also called KIAA1267) cause a full del(17q21.31) phenotype in two unrelated individuals that lack deletion at 17q21.31. These findings indicate that 17q21.31 deletion syndrome is a monogenic disorder caused by haploinsufficiency of KANSL1.

AB - The chromosome 17q21.31 deletion syndrome is a genomic disorder characterized by highly distinctive facial features, moderate-to-severe intellectual disability, hypotonia and friendly behavior. Here, we show that de novo loss-of-function mutations in KANSL1 (also called KIAA1267) cause a full del(17q21.31) phenotype in two unrelated individuals that lack deletion at 17q21.31. These findings indicate that 17q21.31 deletion syndrome is a monogenic disorder caused by haploinsufficiency of KANSL1.

KW - Abnormalities, Multiple

KW - Adolescent

KW - Child, Preschool

KW - Chromosome Deletion

KW - Chromosomes, Human, Pair 17

KW - Facies

KW - Female

KW - Haploinsufficiency

KW - Humans

KW - Intellectual Disability

KW - Nuclear Proteins

KW - Phenotype

KW - Syndrome

KW - Abnormalities, Multiple

KW - Adolescent

KW - Child, Preschool

KW - Chromosome Deletion

KW - Chromosomes, Human, Pair 17

KW - Facies

KW - Female

KW - Haploinsufficiency

KW - Humans

KW - Intellectual Disability

KW - Nuclear Proteins

KW - Phenotype

KW - Syndrome

UR - http://hdl.handle.net/10807/31926

U2 - 10.1038/ng.2257

DO - 10.1038/ng.2257

M3 - Article

SN - 1061-4036

VL - 44

SP - 636

EP - 638

JO - Nature Genetics

JF - Nature Genetics

ER -

Mutations in KANSL1 cause the 17q21.31 microdeletion syndrome phenotype

Abstract

Keywords

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