scholarly journals Severe Meesmann’s epithelial corneal dystrophy phenotype due to a missense mutation in the helix-initiation motif of keratin 12

Eye ◽  
2012 ◽  
Vol 27 (3) ◽  
pp. 367-373 ◽  
Author(s):  
H Hassan ◽  
C Thaung ◽  
N D Ebenezer ◽  
G Larkin ◽  
A J Hardcastle ◽  
...  
Keyword(s):  
Missense Mutation ◽  
Corneal Dystrophy ◽  
Keratin 12

scholarly journals Keratin 12 missense mutation induces the unfolded protein response and apoptosis in Meesmann epithelial corneal dystrophy

2016 ◽  
Vol 25 (6) ◽  
pp. 1176-1191 ◽  
Author(s):  
Edwin H.A. Allen ◽  
David G. Courtney ◽  
Sarah D. Atkinson ◽  
Johnny E. Moore ◽  
Laura Mairs ◽  
...  
Keyword(s):  
Unfolded Protein Response ◽  
Missense Mutation ◽  
Corneal Dystrophy ◽  
Unfolded Protein ◽  
The Unfolded Protein Response ◽  
Protein Response ◽  
Keratin 12

scholarly journals Allele-Specific siRNA Silencing for the Common Keratin 12 Founder Mutation in Meesmann Epithelial Corneal Dystrophy

2013 ◽  
Vol 54 (1) ◽  
pp. 494 ◽  
Author(s):  
Edwin H. A. Allen ◽  
Sarah D. Atkinson ◽  
Haihui Liao ◽  
Jonathan E. Moore ◽  
Deena M. Leslie Pedrioli ◽  
...  
Keyword(s):  
Founder Mutation ◽  
Corneal Dystrophy ◽  
Allele Specific ◽  
The Common ◽  
Sirna Silencing ◽  
Keratin 12

scholarly journals Macular corneal dystrophy related to novel mutations of CHST6 in a Chinese family and clinical observation after penetrating keratoplasty

2021 ◽  
Vol 14 (1) ◽  
Author(s):  
Dewei Li ◽  
Le Tian ◽  
Xiaochuan Wang ◽  
Min Chen
Keyword(s):  
Missense Mutation ◽  
Penetrating Keratoplasty ◽  
Vision Loss ◽  
Corneal Dystrophy ◽  
Postoperative Recurrence ◽  
Deletion Mutation ◽  
Chinese Family ◽  
Colloidal Iron ◽  
Macular Corneal Dystrophy

Abstract Background Macular corneal dystrophy (MCD) is a rare corneal stromal dystrophy with bilateral progressive vision loss. The pathogenic gene of MCD is carbohydrate sulfotransferase 6 (CHST6). Herein, we report a novel missense mutation and a rare exon deletion mutation in the CHST6 gene in a Chinese family with MCD. Methods Genomic DNA was extracted from the peripheral blood, and next generation sequencing was used to analyse the gene sequence. The pathogenic mutations were identified in all affected family members. The proband successively received binocular penetrating keratoplasty (PKP), and the corneas were examined by histopathology and colloidal iron staining to prove the diagnosis. A long-term follow-up was made to observe the changes after PKP. Results Genetic analysis demonstrated hemizygous mutations in the proband, including a novel c.520A>C (p.K174Q) missense mutation and a rarely reported exon 3 deletion mutation, which were co-segregated with the MCD phenotypes in the pedigree. The positive colloidal iron staining confirmed the diagnosis of MCD in the proband. However, the clinical phenotype and pathological manifestation of both eyes were different from each other because of complicated keratitis in the left eye. During the nine years of follow-up, visual acuity was improved significantly, and the cornea was transparent without rejection and postoperative recurrence in both eyes. Conclusions The novel hemizygous mutations were thought to contribute to the loss of CHST6 function, which induced typical clinical and pathological features of MCD. PKP was an effective treatment for MCD.

siRNA Silencing of the Mutant Keratin 12 Allele in Corneal Limbal Epithelial Cells Grown From Patients With Meesmann's Epithelial Corneal Dystrophy

2014 ◽  
Vol 55 (5) ◽  
pp. 3352 ◽  
Author(s):  
David G. Courtney ◽  
Sarah D. Atkinson ◽  
Edwin H. A. Allen ◽  
Johnny E. Moore ◽  
Colum P. Walsh ◽  
...  
Keyword(s):  
Epithelial Cells ◽  
Corneal Dystrophy ◽  
Sirna Silencing ◽  
Keratin 12

scholarly journals Identification of the FirstDe Novo UBIAD1Gene Mutation Associated with Schnyder Corneal Dystrophy

2016 ◽  
Vol 2016 ◽  
pp. 1-9 ◽  
Author(s):  
Benjamin R. Lin ◽  
Ricardo F. Frausto ◽  
Rosalind C. Vo ◽  
Stephan Y. Chiu ◽  
Judy L. Chen ◽  
...  
Keyword(s):  
Family History ◽  
Missense Mutation ◽  
Protein Function ◽  
De Novo ◽  
Family Members ◽  
Corneal Dystrophy ◽  
Slit Lamp ◽  
Slit Lamp Examination ◽  
The Family ◽  
Schnyder Corneal Dystrophy

Purpose.To report the identification of the firstde novo UBIAD1missense mutation in an individual with Schnyder corneal dystrophy (SCD).Methods.A slit lamp examination was performed on a 47-year-old woman without a family history of corneal disorders. The proband’s parents, two sisters, and son were also examined and genomic DNA from all six individuals was collected. The exons and exon-intron boundaries ofUBIAD1were screened using Sanger sequencing. Identified mutations were screened for in 200 control chromosomes.In silicoanalysis predicted the impact of identified mutations on protein function and structure.Results.Slit lamp examination of the proband revealed findings consistent with SCD. Corneas of the family members appeared unaffected. Screening ofUBIAD1in the proband identified a novel heterozygous c.308C>T mutation, predicted to encode the missense amino acid substitution p.(Thr103Ile). This mutation was not identified in any of the family members or in 200 control chromosomes and was predicted to be damaging to normal protein function and structure.Conclusions.We present a novel heterozygousde novomissense mutation inUBIAD1, p.(Thr103Ile), identified in a patient with classic clinical features of SCD. This highlights the value of genetic testing in clinical diagnostic settings, even in the absence of a positive family history.

Molecular Genetics of Meesmann's Corneal Dystrophy: Ancestral and Novel Mutations in Keratin 12 (K12) and Complete Sequence of the Human KRT12 Gene

2000 ◽  
Vol 70 (1) ◽  
pp. 41-49 ◽  
Author(s):  
LAURA D. CORDEN ◽  
OLE SWENSSON ◽  
BEATE SWENSSON ◽  
FRANCES J.D. SMITH ◽  
RAINER ROCHELS ◽  
...  
Keyword(s):  
Molecular Genetics ◽  
Corneal Dystrophy ◽  
Complete Sequence ◽  
Novel Mutations ◽  
Keratin 12
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