A novel KERA mutation associated with autosomal recessive cornea plana

Ophthalmic Genetics
Arif KhanMarios Kambouris

Abstract

To report a novel KERA mutation associated with autosomal recessive cornea plana in members of a nuclear family and to describe their ophthalmic phenotypes. Ophthalmic examination, biometry, and direct sequencing of KERA. 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. This novel point mutation in KERA is the fourth thus far described. The ocular phenotype is characteristic of autosomal recessive cornea plana.

References

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Citations

Nov 28, 2009·Ophthalmic Genetics·Arif O KhanFowzan S Alkuraya
Oct 20, 2006·Ophthalmic Genetics·Arif O KhanBrian Meyer
Oct 3, 2006·Ophthalmology·Arif O KhanBrian Meyer
Dec 7, 2013·Ophthalmic Genetics·Amro Al Hazimi, Arif O Khan
Apr 21, 2016·Ophthalmic Genetics·S OdentK Devriendt
Jul 6, 2017·Acta Ophthalmologica·Lubica DudakovaPetra Liskova
Sep 10, 2020·Frontiers in Cell and Developmental Biology·Sudan PuriVivien J Coulson-Thomas
Apr 17, 2021·Journal of Cell Communication and Signaling·Norio MatsushimaRobert H Kretsinger

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