A novel KERA mutation associated with autosomal recessive cornea plana.
PURPOSE: To report a novel KERA mutation associated with autosomal recessive cornea plana in members of a nuclear family and to describe their ophthalmic phenotypes. METHODS: Ophthalmic examination, biometry, and direct sequencing of KERA. RESULTS: Five of the 6 siblings were affected and had small flat corneas, variable anterior chamber depths, and short axial lengths.The remaining brother and the 2 parents had normal ophthalmic examinations. Genetic testing revealed a novel homozygous nonsense mutation in exon 3 [937C>T] in the clinically affected individuals. The clinically unaffected parents were confirmed as carriers. The clinically unaffected sibling had no KERA mutation. This mutation leads to replacement of an arginine by a stop codon at position 313 of keratocan protein. CONCLUSIONS: This novel point mutation in KERA is the fourth thus far described. The ocular phenotype is characteristic of autosomal recessive cornea plana.[1]References
- A novel KERA mutation associated with autosomal recessive cornea plana. Khan, A., Al-Saif, A., Kambouris, M. Ophthalmic Genet. (2004) [Pubmed]
Annotations and hyperlinks in this abstract are from individual authors of WikiGenes or automatically generated by the WikiGenes Data Mining Engine. The abstract is from MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine.About WikiGenesOpen Access LicencePrivacy PolicyTerms of Useapsburg
