Homozygous mutation (L527R) of TGFBI in an individual with lattice corneal dystrophy

Yamada, Naoyuki; Ti, Chikama; Morishige, Naoyuki; Yanai, R; Nishida, Teruo; Inui, Masayuki; Seki, Kouhei

doi:10.1136/bjo.2004.056168

Cited by 9 publications

(1 citation statement)

References 9 publications

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“…Genomic DNA was isolated from the peripheral blood leukocytes, using the QIAmp DNA Mini Kit (Qiagen, Hamburg, Germany). Polymerase chain reaction (PCR) was carried out using previously published primer sets for TGFBI , CHST6 , UBIAD1 , COL8A2 , ZEB1 (which is also known as TCF8 ) , and SLC4A11 . All the coding exons and the flanking intron/exon boundaries of the above genes were amplified.…”

Section: Methodsmentioning

confidence: 99%

Mutational spectrum of Korean patients with corneal dystrophy

Chae

Kim

et al. 2016

Clinical Genetics

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Corneal dystrophy typically refers to a group of rare hereditary disorders with a heterogeneous genetic background. A comprehensive molecular genetic analysis was performed to characterize the genetic spectrum of corneal dystrophies in Korean patients. Patients with various corneal dystrophies underwent thorough ophthalmic examination, histopathologic examination, and Sanger sequencing. A total of 120 probands were included, with a mean age of 50 years (SD = 18 years) and 70% were female. A total of 26 mutations in five genes (14 clearly pathogenic and 12 likely pathogenic) were identified in 49 probands (41%). Epithelial-stromal TGFBI dystrophies, macular corneal dystrophy and Schnyder corneal dystrophy (SCD) showed 100% mutation detection rates, while endothelial corneal dystrophies showed lower detection rates of 3%. Twenty six non-duplicate mutations including eight novel mutations were identified and mutations associated with SCD were identified genetically for the first time in this population. This study provides a comprehensive characterization of the genetic aberrations in Korean patients and also highlights the diagnostic value of molecular genetic analysis in corneal dystrophies.

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Section: Methodsmentioning

confidence: 99%

Mutational spectrum of Korean patients with corneal dystrophy

Chae

Kim

et al. 2016

Clinical Genetics

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Elucidating the Molecular Genetic Basis of the Corneal Dystrophies

Aldave¹

2007

Arch Ophthalmol

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A Novel Variant of Combined Granular-Lattice Corneal Dystrophy Associated With the Met619Lys Mutation in the TGFBI Gene

Aldave

Yellore²,

Sönmez³

et al. 2008

Arch Ophthalmol

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To report a novel mutation in TGFBI (Gen-Bank NM_000358), p.Met619Lys, associated with a variant of combined granular-lattice corneal dystrophy. Methods: Slitlamp examination and DNA collection from the proband and affected and unaffected relatives. All 17 exons of TGFBI were amplified and sequenced in the proband. Exon 14 was amplified and sequenced in the proband's family members and in 100 controls. Histopathologic examination of the excised corneal buttons from the proband and 3 family members was also performed. Results: Affected individuals demonstrated an agedependent phenotype, with the progression from central subepithelial needlelike deposits in younger individuals to polymorphic anterior stromal opacities in older family members. Screening of TGFBI in the proband demonstrated a novel mutation, p.Met619Lys, which was also present in all affected family members. Histopathologic examination revealed stromal deposits that stained with the Congo red and Masson trichrome stains as well as an antibody to the protein product of TGFBI. Conclusions: We present a unique corneal dystrophy phenotype associated with the novel p.Met619Lys mutation in TGFBI. Clinical Relevance: The atypical and variable phenotype and the demonstration of both hyaline and amyloid stromal deposits indicate that neither clinical nor histopathologic features may be relied on to accurately diagnose and classify the corneal dystrophies.

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Homozygous mutation (L527R) of TGFBI in an individual with lattice corneal dystrophy

Cited by 9 publications

References 9 publications

Mutational spectrum of Korean patients with corneal dystrophy

Mutational spectrum of Korean patients with corneal dystrophy

Elucidating the Molecular Genetic Basis of the Corneal Dystrophies

A Novel Variant of Combined Granular-Lattice Corneal Dystrophy Associated With the Met619Lys Mutation in the TGFBI Gene

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