RBPJ mutations identified in two families affected by Adams-Oliver syndrome

Susan J. Hassed; Graham B. Wiley; Shaofeng Wang; Ji Yun Lee; Shibo Li; Weihong Xu; Zhizhuang J. Zhao; John J. Mulvihill; James Robertson; James Warner; Patrick M. Gaffney

doi:10.1016/j.ajhg.2012.07.005

RBPJ mutations identified in two families affected by Adams-Oliver syndrome

Susan J. Hassed, Graham B. Wiley, Shaofeng Wang, Ji Yun Lee, Shibo Li, Weihong Xu, Zhizhuang J. Zhao, John J. Mulvihill, James Robertson, James Warner, Patrick M. Gaffney

Research output: Contribution to journal › Article › peer-review

90 Citations (Scopus)

Abstract

Through exome resequencing, we identified two unique mutations in recombination signal binding protein for immunoglobulin kappa J (RBPJ) in two independent families affected by Adams-Oliver syndrome (AOS), a rare multiple-malformation disorder consisting primarily of aplasia cutis congenita of the vertex scalp and transverse terminal limb defects. These identified mutations link RBPJ, the primary transcriptional regulator for the Notch pathway, with AOS, a human genetic disorder. Functional assays confirmed impaired DNA binding of mutated RBPJ, placing it among other notch-pathway proteins altered in human genetic syndromes.

Original language	English
Pages (from-to)	391-395
Number of pages	5
Journal	American Journal of Human Genetics
Volume	91
Issue number	2
DOIs	https://doi.org/10.1016/j.ajhg.2012.07.005
Publication status	Published - 2012 Aug 10
Externally published	Yes

ASJC Scopus subject areas

Genetics
Genetics(clinical)

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10.1016/j.ajhg.2012.07.005

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@article{e44ef6dd1d694b2d97862ccc374eb996,

title = "RBPJ mutations identified in two families affected by Adams-Oliver syndrome",

abstract = "Through exome resequencing, we identified two unique mutations in recombination signal binding protein for immunoglobulin kappa J (RBPJ) in two independent families affected by Adams-Oliver syndrome (AOS), a rare multiple-malformation disorder consisting primarily of aplasia cutis congenita of the vertex scalp and transverse terminal limb defects. These identified mutations link RBPJ, the primary transcriptional regulator for the Notch pathway, with AOS, a human genetic disorder. Functional assays confirmed impaired DNA binding of mutated RBPJ, placing it among other notch-pathway proteins altered in human genetic syndromes.",

author = "Hassed, {Susan J.} and Wiley, {Graham B.} and Shaofeng Wang and Lee, {Ji Yun} and Shibo Li and Weihong Xu and Zhao, {Zhizhuang J.} and Mulvihill, {John J.} and James Robertson and James Warner and Gaffney, {Patrick M.}",

note = "Funding Information: We thank the individuals who participated in this research through contribution of personal health information and samples without the expectation of personal gain, as well as fellow medical professionals who referred them. We thank Hong Chen and Courtney Griffin for providing advice on the experimental design. We thank Xiao-Hong Sun for critically reading and providing advice on the content of the manuscript. This work was funded through an Oklahoma Medical Research Foundation Research Grant (9138-12 to P.M.G.). ",

year = "2012",

month = aug,

day = "10",

doi = "10.1016/j.ajhg.2012.07.005",

language = "English",

volume = "91",

pages = "391--395",

journal = "American Journal of Human Genetics",

issn = "0002-9297",

publisher = "Cell Press",

number = "2",

}

TY - JOUR

T1 - RBPJ mutations identified in two families affected by Adams-Oliver syndrome

AU - Hassed, Susan J.

AU - Wiley, Graham B.

AU - Wang, Shaofeng

AU - Lee, Ji Yun

AU - Li, Shibo

AU - Xu, Weihong

AU - Zhao, Zhizhuang J.

AU - Mulvihill, John J.

AU - Robertson, James

AU - Warner, James

AU - Gaffney, Patrick M.

N1 - Funding Information: We thank the individuals who participated in this research through contribution of personal health information and samples without the expectation of personal gain, as well as fellow medical professionals who referred them. We thank Hong Chen and Courtney Griffin for providing advice on the experimental design. We thank Xiao-Hong Sun for critically reading and providing advice on the content of the manuscript. This work was funded through an Oklahoma Medical Research Foundation Research Grant (9138-12 to P.M.G.).

PY - 2012/8/10

Y1 - 2012/8/10

N2 - Through exome resequencing, we identified two unique mutations in recombination signal binding protein for immunoglobulin kappa J (RBPJ) in two independent families affected by Adams-Oliver syndrome (AOS), a rare multiple-malformation disorder consisting primarily of aplasia cutis congenita of the vertex scalp and transverse terminal limb defects. These identified mutations link RBPJ, the primary transcriptional regulator for the Notch pathway, with AOS, a human genetic disorder. Functional assays confirmed impaired DNA binding of mutated RBPJ, placing it among other notch-pathway proteins altered in human genetic syndromes.

AB - Through exome resequencing, we identified two unique mutations in recombination signal binding protein for immunoglobulin kappa J (RBPJ) in two independent families affected by Adams-Oliver syndrome (AOS), a rare multiple-malformation disorder consisting primarily of aplasia cutis congenita of the vertex scalp and transverse terminal limb defects. These identified mutations link RBPJ, the primary transcriptional regulator for the Notch pathway, with AOS, a human genetic disorder. Functional assays confirmed impaired DNA binding of mutated RBPJ, placing it among other notch-pathway proteins altered in human genetic syndromes.

UR - http://www.scopus.com/inward/record.url?scp=84864946319&partnerID=8YFLogxK

U2 - 10.1016/j.ajhg.2012.07.005

DO - 10.1016/j.ajhg.2012.07.005

M3 - Article

C2 - 22883147

AN - SCOPUS:84864946319

SN - 0002-9297

VL - 91

SP - 391

EP - 395

JO - American Journal of Human Genetics

JF - American Journal of Human Genetics

IS - 2

ER -

RBPJ mutations identified in two families affected by Adams-Oliver syndrome

Abstract

ASJC Scopus subject areas

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