A comprehensive molecular genetic analysis of keratoconus patients from assam, a northeastern state of India

Author:

Chakravarty Mrigyanka1ORCID,Ponnam Surya Prakash Goud1ORCID,Bardoloi Narayan2,Kumar Subhash2,Saikia Prasanta3

Affiliation:

1. Department of Molecular Biology & Biotechnology, Tezpur University, Napaam, Sonitpur, Assam, India

2. Department of Cornea and Anterior Segment Services, Chandraprabha Eye Hospital, Jorhat, Assam, India

3. Department of Vitreo-Retinal services, Chandraprabha Eye Hospital (CPEH), Jorhat, Assam, India

Abstract

Introduction Keratoconus (KC, OMIM: 148300) is a progressive corneal ectatic disorder characterized by thinning and protrusion of cornea resulting in visual decrement. Materials and Methods In the current study, we recruited a total of 50 KC patients and 100 case-controls domiciles of Assam, based on preset inclusion and exclusion criteria. All the important and relevant signs and symptoms were recorded. Amsler-Krumeich's (AK) classification was followed to grade KC corneas. We screened for the novel as well as reported sequence variations in five candidate genes namely Lysyl oxidase (LOX), Visual system homeobox 1 (VSX1), MicroRNA 184 (MIR184), Superoxide dismutase 1 (SOD1), and exons 4 and 12 of Transforming growth factor beta-induced (TGFβ-I). Results We report a novel double variant p.(Pro32Arg) and p.(Gln67Glu) in the LOX gene in a sporadic male patient with Grade I (OD) and Grade II (OS) of KC. A recurrent variant p.(His244Arg) in the VSX1 gene was also observed in a sporadic female patient with Grade I of KC in both eyes. These variants were absent in 100 unrelated ethnically matched case controls. Discussion Ours is the first study on molecular genetic analysis of Keratoconus patients from Assam. The novel variants p.(Pro32Arg) and p.(Gln67Glu) observed further expand the mutational spectrum of the LOX gene associated with KC. We are also the first group to report the recurrent p.(His244Arg) variant in the VSX1 gene from India. The observed variant p.(His244Arg) in the VSX1 gene could be the result of a founder effect and may be investigated further.

Funder

Department of Biotechnology , Ministry of Science and Technology

Publisher

SAGE Publications

Subject

Ophthalmology,General Medicine

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