PUF60 variants cause a syndrome of ID, short stature, microcephaly, coloboma, craniofacial, cardiac, renal and spinal features-Reference-Cited by-同舟云学术

PUF60 variants cause a syndrome of ID, short stature, microcephaly, coloboma, craniofacial, cardiac, renal and spinal features

Published:2017-03-22 Issue:5 Volume:25 Page:552-559
ISSN:1018-4813
Container-title:European Journal of Human Genetics
language:en
Short-container-title:Eur J Hum Genet

Author:

Low Karen J,Ansari Morad,Abou Jamra Rami,Clarke Angus,El Chehadeh Salima,FitzPatrick David R,Greenslade Mark,Henderson Alex,Hurst Jane,Keller Kory,Kuentz Paul,Prescott Trine,Roessler Franziska,Selmer Kaja K,Schneider Michael C,Stewart Fiona,Tatton-Brown Katrina,Thevenon Julien,Vigeland Magnus D,Vogt Julie,Willems Marjolaine,Zonana Jonathan,Study D D D,Smithson Sarah F

Publisher

Springer Science and Business Media LLC

Subject

Genetics(clinical),Genetics

Link

http://www.nature.com/articles/ejhg201727.pdf

Reference17 articles.

1. Verheij JBGM, de Munnik SA, Dijkhuizen T et al: An 8.35 Mb overlapping interstitial deletion of 8q24 in two patients with coloboma, congenital heart defect, limb abnormalities, psychomotor retardation and convulsions. Eur J Med Genet 2009; 52: 353–357.

2. Dauber A, Golzio C, Guenot C et al: SCRIB and PUF60 are primary drivers of the multisystemic phenotypes of the 8q24.3 copy-number variant. Am J Hum Genet 2013; 93: 798–811.

3. Wells C, Spaggiari E, Malan V et al: First fetal case of the 8q24.3 contiguous genes syndrome. Am J Hum Genet 2016; 170A: 239–242.

4. Hastings ML, Allemand E, Duelli DM, Myers MP, Krainer AR : Control of pre-MRNA splicing by the general splicing factors PUF60 and U2AF(65). PLoS One 2, 2007; e538.

5. El Chehadeh S, Kerstjens-Frederikse WS, Thevenon J et al: Dominant variants in the splicing factor PUF60 cause a recognizable syndrome with intellectual disability, heart defects and short stature. Eur J Hum Genet 2016; 25: 43–51.

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