Mutation analysis of TGFBI and KRT12 in a case of concomitant keratoconus and granular corneal dystrophy

Du, Xianli; Chen, Peng; Sun, Dianqing

doi:10.1007/s00417-017-3699-5

Cited by 7 publications

(1 citation statement)

References 21 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…βig-h3 protein is reported to be expressed in low levels during KC development. While Guan et (2012) 25 had reported point mutation p.(Gln535X) and polymorphism p.(Phe540Phe) in exon 12, Du et al (2017) 26 had reported a novel mutation p.(Arg124His) in exon 4 of the TGFβ-I gene with KC. Screening of SOD1, MIR184 and TGFβ-I (Exons-4 and 12) genes have not resulted in the identification of any mutations, suggesting that there could be involvement of other genes and/or their regulatory genetic elements, that need to be analyzed further.…”

Section: Discussionmentioning

confidence: 99%

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

Chakravarty

Ponnam

Bardoloi

et al. 2022

European Journal of Ophthalmology

View full text Add to dashboard Cite

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.

show abstract

Section: Discussionmentioning

confidence: 99%