A novel mutation in the cornea-specific keratin 12 gene in Meesmann corneal dystrophy

Seto, Toshiyuki; Fujiki, Keiko; Kishishita, Hitoshi; Fujimaki, Takamitsu; Murakami, Akira; Kanai, Atsushi

doi:10.1007/s10384-007-0518-2

Cited by 6 publications

(4 citation statements)

References 5 publications

Supporting

Mentioning

Contrasting

Unclassified

Order By: Relevance

“…2). Previously, clear zones in this dystrophy' patients have been described in 6 reports [5,9,17,21,26,30]. In 4 of these reports, patients with clear zones were younger than 40 years old, suggesting that clear zones tend to be found in the corneal epithelium of young patients.…”

Section: Discussionmentioning

confidence: 98%

See 1 more Smart Citation

In vivo histology and p.L132V mutation in KRT12 gene in Japanese patients with Meesmann corneal dystrophy

et al. 2018

Self Cite

View full text Add to dashboard Cite

Purpose To report genetic mutational analysis and in vivo histology of Meesmann corneal dystrophy. Study design Prospective, case control study. Methods Six patients from three independent families with clinically diagnosed Meesmann corneal dystrophy were enrolled in this study. Slit-lamp biomicroscopy with fluorescein vital staining, anterior segment optical coherence tomography (AS-OCT), and in vivo laser confocal microscopy (IVCM) were performed on selected patients. Mutational screening for the keratin genes KRT3 and KRT12 was performed in all six patients and selected unaffected family members. Results Slit-lamp biomicroscopy revealed numerous intraepithelial microcysts in all affected individuals. AS-OCT revealed hyperreflectivity and high corneal epithelial layer thickness (mean, 64.8μm) in all individuals tested (3/3). By using IVCM, multiple epithelial microcysts and hyperreflective materials (6/6), subepithelial nerve abnormalities (6/6), tiny punctate hyperreflective material (6/6), and needle-like hyperreflective materials (4/6) were observed in the corneal stromal layer. A heterozygous genetic mutation in the KRT12 gene (c.394 C>G, p.L132V) was identified in all six patients. No pathological mutation was observed in the KRT3 gene. Conclusion We identified a heterozygous genetic mutation (c.394 C>G, p.L132V) in the KRT12 gene in six Japanese patients with inherited Meesmann corneal dystrophy. This is the first study to confirm this genetic mutation in Japanese Meesmann corneal dystrophy patients. This mutation has been independently reported in an American Meesmann corneal dystrophy patient, confirming its pathogenicity. AS-OCT and IVCM proved to be useful tools for observing corneal epithelial layer pathology in this dystrophy. Furthermore, IVCM reveals corneal stromal layer pathological changes not previously reported in this dystrophy.

show abstract

Section: Discussionmentioning

confidence: 98%

“…To date, 4 mutations in the KRT3 gene and 24 mutations in the KRT12 gene have been reported in this dystrophy . Among the 28 mutations of this dystrophy, 8 have been identified in the KRT12 gene in Japanese patients [3,8,17,21], but none in the KRT3 gene.…”

Section: Introductionmentioning

confidence: 99%

In vivo histology and p.L132V mutation in KRT12 gene in Japanese patients with Meesmann corneal dystrophy

et al. 2018

Self Cite

View full text Add to dashboard Cite

show abstract

“…The Vietnamese family with MECD that we report is the first from South East Asia. Since the first case of MECD was reported in an 8-year-old Dutch boy 84 years ago [1], affected individuals of other European (German and Swiss), American, and East Asian (Japanese, Chinese and Taiwanese) nationalities have been reported [2,4,7,8,14,17,18,22,25,26]. The absence of reported MECD cases from South East Asia and other regions may be due to regional variations in the prevalence of MECD, reporting bias, or a combination of the two.…”

Section: Discussionmentioning

confidence: 99%

Identification of a Novel Missense <b><i>KRT12</i></b> Mutation in a Vietnamese Family with Meesmann Corneal Dystrophy

Dong

Cung

Sam

et al. 2020

Case Rep Ophthalmol

View full text Add to dashboard Cite

Meesmann epithelial corneal dystrophy (MECD) is a rare dominantly inherited disorder that is characterized by corneal epithelial microcysts and is associated with mutations in the keratin 3 (KRT3) and keratin 12 (KRT12) genes. In this study, we report a novel mutation in the KRT12 gene in a Vietnamese pedigree with MECD. Slit-lamp examination was performed on each of the 7 recruited members of a Vietnamese family to identify characteristic features of MECD. After informed consent was obtained from each individual, genomic DNA was isolated from saliva samples and screening of KRT3 and KRT12 genes was performed by Sanger sequencing. The proband, a 31-year-old man, complained of a 1year history of eye irritation and photophobia. Slit-lamp examination revealed intraepithelial microcysts involving only the corneal periphery in each eye with clear central corneas and no stromal or endothelial involvement. Three family members demonstrated similar intraepithelial microcysts, but with diffuse involvement, extended from limbus to limbus. Sanger sequencing of KRT3 (exon 7) and KRT12 (exons 1 and 6) in the proband Case

show abstract

“…Topics covered are new mutations, new clinical/histological phenotypes, first descriptions of known mutations in previously not mentioned ethnic groups, new dystrophic entities after modern corneal surgery and potentially new types of conservative therapy.fikation sind 2 KRT3-Mutationen und 16 KRT12-Mutationen beschrieben. In einer japanischen Familie wurde eine neue Mutation, L433R, im KRT12-Gen gefunden[1]. Eine neue, ebenfalls heterozygote Mutation E498V wurde im Exon 7 des KRT3-Gens bei einer polnischen Familie mit Meesmann-Dystrophie beschrieben mit "klassischem" Phänotyp[2].…”

unclassified

Update Hornhautdystrophien: Neues nach der Erstveröffentlichung der IC3D-Klassifikation

Auw-Hädrich

Reinhard

Grünauer-Klövekorn

2014

Klin Monatsbl Augenheilkd

View full text Add to dashboard Cite

show abstract

A novel mutation in the cornea-specific keratin 12 gene in Meesmann corneal dystrophy

Abstract: The novel L433R mutation of the KRT12 gene found in two members of this Japanese family caused MECD.

Cited by 6 publications

References 5 publications

In vivo histology and p.L132V mutation in KRT12 gene in Japanese patients with Meesmann corneal dystrophy

In vivo histology and p.L132V mutation in KRT12 gene in Japanese patients with Meesmann corneal dystrophy

Identification of a Novel Missense <b><i>KRT12</i></b> Mutation in a Vietnamese Family with Meesmann Corneal Dystrophy

Update Hornhautdystrophien: Neues nach der Erstveröffentlichung der IC3D-Klassifikation

Contact Info

Product

Resources

About