Novel mutation and three other sequence variants segregating with phenotype at keratoconus 13q32 susceptibility locus View Full Text


Ontology type: schema:ScholarlyArticle      Open Access: True


Article Info

DATE

2011-11-02

AUTHORS

Marta Czugala, Justyna A Karolak, Dorota M Nowak, Piotr Polakowski, Jose Pitarque, Andrea Molinari, Malgorzata Rydzanicz, Bassem A Bejjani, Beatrice Y J T Yue, Jacek P Szaflik, Marzena Gajecka

ABSTRACT

Keratoconus (KTCN), a non-inflammatory corneal disorder characterized by stromal thinning, represents a major cause of corneal transplantations. Genetic and environmental factors have a role in the etiology of this complex disease. Previously reported linkage analysis revealed that chromosomal region 13q32 is likely to contain causative gene(s) for familial KTCN. Consequently, we have chosen eight positional candidate genes in this region: MBNL1, IPO5, FARP1, RNF113B, STK24, DOCK9, ZIC5 and ZIC2, and sequenced all of them in 51 individuals from Ecuadorian KTCN families and 105 matching controls. The mutation screening identified one mutation and three sequence variants showing 100% segregation under a dominant model with KTCN phenotype in one large Ecuadorian family. These substitutions were found in three different genes: c.2262A>C (p.Gln754His) and c.720+43A>G in DOCK9; c.2377-132A>C in IPO5 and c.1053+29G>C in STK24. PolyPhen analyses predicted that c.2262A>C (Gln754His) is possibly damaging for the protein function and structure. Our results suggest that c.2262A>C (p.Gln754His) mutation in DOCK9 may contribute to the KTCN phenotype in the large KTCN-014 family. More... »

PAGES

389-397

Identifiers

URI

http://scigraph.springernature.com/pub.10.1038/ejhg.2011.203

DOI

http://dx.doi.org/10.1038/ejhg.2011.203

DIMENSIONS

https://app.dimensions.ai/details/publication/pub.1015791772

PUBMED

https://www.ncbi.nlm.nih.gov/pubmed/22045297


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