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 | |
| Publication status | Published - 2012 Aug 10 |
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ASJC Scopus subject areas
- Genetics
- Genetics(clinical)
Cite this
RBPJ mutations identified in two families affected by Adams-Oliver syndrome. / Hassed, Susan J.; Wiley, Graham B.; Wang, Shaofeng; Lee, Ji-Yun; Li, Shibo; Xu, Weihong; Zhao, Zhizhuang J.; Mulvihill, John J.; Robertson, James; Warner, James; Gaffney, Patrick M.
In: American Journal of Human Genetics, Vol. 91, No. 2, 10.08.2012, p. 391-395.Research output: Contribution to journal › Article
}
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.
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
UR - http://www.scopus.com/inward/citedby.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
VL - 91
SP - 391
EP - 395
JO - American Journal of Human Genetics
JF - American Journal of Human Genetics
SN - 0002-9297
IS - 2
ER -