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A recurrent synonymous KAT6B mutation causes Say-Barber-Biesecker/Young-Simpson syndrome by inducing aberrant splicing

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A recurrent synonymous KAT6B mutation causes Say-Barber-Biesecker/Young-Simpson syndrome by inducing aberrant splicing. / Yilmaz, Rüstem; Beleza-Meireles, Ana; Price, Susan; Oliveira, Renata; Kubisch, Christian; Clayton-Smith, Jill; Szakszon, Katalin; Borck, Guntram.

In: AM J MED GENET A, Vol. 167, No. 12, 12.2015, p. 3006-3010.

Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

Harvard

Yilmaz, R, Beleza-Meireles, A, Price, S, Oliveira, R, Kubisch, C, Clayton-Smith, J, Szakszon, K & Borck, G 2015, 'A recurrent synonymous KAT6B mutation causes Say-Barber-Biesecker/Young-Simpson syndrome by inducing aberrant splicing', AM J MED GENET A, vol. 167, no. 12, pp. 3006-3010. https://doi.org/10.1002/ajmg.a.37343

APA

Yilmaz, R., Beleza-Meireles, A., Price, S., Oliveira, R., Kubisch, C., Clayton-Smith, J., Szakszon, K., & Borck, G. (2015). A recurrent synonymous KAT6B mutation causes Say-Barber-Biesecker/Young-Simpson syndrome by inducing aberrant splicing. AM J MED GENET A, 167(12), 3006-3010. https://doi.org/10.1002/ajmg.a.37343

Vancouver

Yilmaz R, Beleza-Meireles A, Price S, Oliveira R, Kubisch C, Clayton-Smith J et al. A recurrent synonymous KAT6B mutation causes Say-Barber-Biesecker/Young-Simpson syndrome by inducing aberrant splicing. AM J MED GENET A. 2015 Dec;167(12):3006-3010. https://doi.org/10.1002/ajmg.a.37343

Bibtex

@article{da97e2ed68684eb99a70783105abacb6,
title = "A recurrent synonymous KAT6B mutation causes Say-Barber-Biesecker/Young-Simpson syndrome by inducing aberrant splicing",
abstract = "Mutations of the histone acetyltransferase-encoding KAT6B gene cause the Say-Barber-Biesecker/Young-Simpson (SBBYS) type of blepharophimosis-{"}mental retardation{"} syndromes and the more severe genitopatellar syndrome. The SBBYS syndrome-causing mutations are clustered in the large exon 18 of KAT6B and almost exclusively lead to predicted protein truncation. An atypical KAT6B mutation, a de novo synonymous variant located in exon 16 (c.3147G>A, p.(Pro1049Pro)) was previously identified in three unrelated patients. This exonic mutation was predicted in silico to cause protein truncation through aberrant splicing. Here, we report three additional unrelated children with typical SBBYS syndrome and the KAT6B c.3147G>A mutation. We show on RNA derived from patient blood that the mutation indeed induces aberrant splicing through the use of a cryptic exonic splice acceptor site created by the sequence variant. Our results thus identify the synonymous variant c.3147G>A as a splice site mutation and a mutational hot spot in SBBYS syndrome. {\textcopyright} 2015 Wiley Periodicals, Inc.",
author = "R{\"u}stem Yilmaz and Ana Beleza-Meireles and Susan Price and Renata Oliveira and Christian Kubisch and Jill Clayton-Smith and Katalin Szakszon and Guntram Borck",
note = "{\textcopyright} 2015 Wiley Periodicals, Inc.",
year = "2015",
month = dec,
doi = "10.1002/ajmg.a.37343",
language = "English",
volume = "167",
pages = "3006--3010",
journal = "AM J MED GENET A",
issn = "1552-4825",
publisher = "Wiley-Liss Inc.",
number = "12",

}

RIS

TY - JOUR

T1 - A recurrent synonymous KAT6B mutation causes Say-Barber-Biesecker/Young-Simpson syndrome by inducing aberrant splicing

AU - Yilmaz, Rüstem

AU - Beleza-Meireles, Ana

AU - Price, Susan

AU - Oliveira, Renata

AU - Kubisch, Christian

AU - Clayton-Smith, Jill

AU - Szakszon, Katalin

AU - Borck, Guntram

N1 - © 2015 Wiley Periodicals, Inc.

PY - 2015/12

Y1 - 2015/12

N2 - Mutations of the histone acetyltransferase-encoding KAT6B gene cause the Say-Barber-Biesecker/Young-Simpson (SBBYS) type of blepharophimosis-"mental retardation" syndromes and the more severe genitopatellar syndrome. The SBBYS syndrome-causing mutations are clustered in the large exon 18 of KAT6B and almost exclusively lead to predicted protein truncation. An atypical KAT6B mutation, a de novo synonymous variant located in exon 16 (c.3147G>A, p.(Pro1049Pro)) was previously identified in three unrelated patients. This exonic mutation was predicted in silico to cause protein truncation through aberrant splicing. Here, we report three additional unrelated children with typical SBBYS syndrome and the KAT6B c.3147G>A mutation. We show on RNA derived from patient blood that the mutation indeed induces aberrant splicing through the use of a cryptic exonic splice acceptor site created by the sequence variant. Our results thus identify the synonymous variant c.3147G>A as a splice site mutation and a mutational hot spot in SBBYS syndrome. © 2015 Wiley Periodicals, Inc.

AB - Mutations of the histone acetyltransferase-encoding KAT6B gene cause the Say-Barber-Biesecker/Young-Simpson (SBBYS) type of blepharophimosis-"mental retardation" syndromes and the more severe genitopatellar syndrome. The SBBYS syndrome-causing mutations are clustered in the large exon 18 of KAT6B and almost exclusively lead to predicted protein truncation. An atypical KAT6B mutation, a de novo synonymous variant located in exon 16 (c.3147G>A, p.(Pro1049Pro)) was previously identified in three unrelated patients. This exonic mutation was predicted in silico to cause protein truncation through aberrant splicing. Here, we report three additional unrelated children with typical SBBYS syndrome and the KAT6B c.3147G>A mutation. We show on RNA derived from patient blood that the mutation indeed induces aberrant splicing through the use of a cryptic exonic splice acceptor site created by the sequence variant. Our results thus identify the synonymous variant c.3147G>A as a splice site mutation and a mutational hot spot in SBBYS syndrome. © 2015 Wiley Periodicals, Inc.

U2 - 10.1002/ajmg.a.37343

DO - 10.1002/ajmg.a.37343

M3 - SCORING: Journal article

C2 - 26334766

VL - 167

SP - 3006

EP - 3010

JO - AM J MED GENET A

JF - AM J MED GENET A

SN - 1552-4825

IS - 12

ER -