A synonymous splicing mutation in the SF3B4 gene segregates in a family with highly variable Nager syndrome-Reference-Cited by-同舟云学术

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A synonymous splicing mutation in the SF3B4 gene segregates in a family with highly variable Nager syndrome

Published:2016-12-14 Issue:3 Volume:25 Page:371-375
ISSN:1018-4813
Container-title:European Journal of Human Genetics
language:en
Short-container-title:Eur J Hum Genet

Author:

Cassina Matteo,Cerqua Cristina,Rossi Silvia,Salviati Leonardo,Martini Alessandro,Clementi Maurizio,Trevisson Eva

Publisher

Springer Science and Business Media LLC

Subject

Genetics(clinical),Genetics

Link

http://www.nature.com/articles/ejhg2016176.pdf

Reference13 articles.

1. Chemke J, Mogilner BM, Ben-Itzhak I, Zurkowski L, Ophir D : Autosomal recessive inheritance of Nager acrofacial dysostosis. J Med Genet 1988; 25: 230–232.

2. Hall BD : Nager acrofacial dysostosis: autosomal dominant inheritance in mild to moderately affected mother and lethally affected phocomelic son. Am J Med Genet 1989; 33: 394–397.

3. Aylsworth AS, Lin AE, Friedman PA : Nager acrofacial dysostosis: male-to-male transmission in 2 families. Am J Med Genet 1991; 41: 83–88.

4. Bernier FP, Caluseriu O, Ng S et al :Haploinsufficiency of SF3B4, a component of the pre-mRNA spliceosomal complex, causes Nager syndrome. Am J Hum Genet 2012; 90: 925–933.

5. Petit F, Escande F, Jourdain AS et al :Nager syndrome: confirmation of SF3B4 haploinsufficiency as the major cause. Clin Genet 2014; 86: 246–251.

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