Information de reference pour ce titreAccession Number: | 00061198-201602000-00027.
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Author: | Kumari, Deepa MSc; Tiwari, Ankit MSc; Choudhury, Mahasweta BOptom; Kumar, Abhishek BOptom; Rao, Aparna MD, FRCS; Dixit, Manjusha PhD
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Institution: | (*)School of Biological Sciences, National Institute of Science Education and Research, Institute of Physics Campus (+)Glaucoma Services, LV Prasad Eye Institute, Bhubaneswar, Odisha, India
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Title: | |
Source: | Journal of Glaucoma. 25(2):e106-e109, February 2016.
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Abstract: | Purpose: Keratocan is a cornea-specific keratan sulfate proteoglycan found predominantly in the adult vertebrate eye. In human beings, mutations in keratocan (KERA) are associated with autosomal recessive cornea plana (CNA2), which is characterized by a flattened forward convex curvature of the cornea. Here, we report a novel mutation in a case of autosomal recessive bilateral cornea plana presenting with primary angle-closure glaucoma in a 41-year-old woman from Eastern India.
Methods: The KERA gene of the patient and her sons was directly sequenced.
Results: Mutational analysis of the KERA revealed 2 novel mutations. The first mutation was a 3 base-pair deletion (c.371_373delTCT), leading to the loss of a highly conserved amino acid (p.Phe125del). The second mutation was a base substitution resulting in a silent mutation (c.69G>A). One of her 2 sons carried the homozygous substitution (c.69G>A), whereas the other son was heterozygous (c.69G>R).
Conclusions: The mutation that we report here leads to the deletion of a conserved amino acid (p.Phe125del) from the third LRR motif of the keratocan protein, which might lead to an abnormal tertiary structure of the protein, thereby leading to the disease.
Copyright (C) 2016 Wolters Kluwer Health, Inc. All rights reserved.
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Author Keywords: | primary angle-closure glaucoma; cornea plana; keratocan; KERA; CNA2.
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Language: | English.
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Document Type: | Online Articles: Case Reports.
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Journal Subset: | Clinical Medicine. Health Professions.
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ISSN: | 1057-0829
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NLM Journal Code: | cma
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DOI Number: | https://dx.doi.org/10.1097/IJG.0...- ouverture dans une nouvelle fenêtre
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