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Unusual phenotype in a family with the R124C mutation in the TGFBI gene
Author(s) -
UDZIELA M,
OLDAK M,
FEDEROWICZ A,
PLOSKI RAFAL,
SZAFLIK JP,
SZAFLIK J
Publication year - 2012
Publication title -
acta ophthalmologica
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.534
H-Index - 87
eISSN - 1755-3768
pISSN - 1755-375X
DOI - 10.1111/j.1755-3768.2012.t006.x
Subject(s) - missense mutation , genetics , proband , tgfbi , mutation , corneal dystrophy , exon , biology , phenotype , microbiology and biotechnology , loss of heterozygosity , dystrophy , gene mutation , gene , cornea , allele , neuroscience
Purpose To report on a Polish family with unusual corneal changes associated with the arginine‐124 Methods We report on a 2‐generation Polish family in which corneal phenotype was assessed by slit lamp and confocal microscopy in vivo. Genomic DNA was obtained from blood samples and all exons known to contain mutation hot spots within the TGFBI gene, were PCR amplified and sequenced on both strand Results Affected family members complained of ocular discomfort, pain and visual impairment. The symptoms in the proband began in the third decade of life, while in the daughter in the second decade and have progressed slowly. Ophthalmologic examination revealed the presence of linear and branching structures within the anterior stroma, typically observed in lattice corneal dystrophy. Interestingly, these changes were accompanied by the presence of highly reflective deposits characteristic for granular corneal dystrophy. Genetic testing identified a heterozygous missense (CGC to TGC) mutation, which changed arginine in codon 124 to cysteine in the TGFBI gene in both affected family members Conclusion Mutation of arginine 124 to cysteine (R124C) of the TGFBI gene represents one of the most frequent mutations detected in patients with lattice corneal dystrophy. However, to the best of our knowledge, this is the first report on a family carrying the R124C mutation and presenting features of both granular and lattice lesions. The state of compound heterozygosity does not account for the observed mixed phenotype, as no other mutation within the TGFBI gene was found. If corneal buttons are available, histopathological examinations will be carried out to identify the nature of the deposits and better understand the mechanism of the disease