Arg555Gln mutation of TGFBI gene in geographical-type Reis-Bücklers corneal dystrophy in a Chinese family.
OBJECTIVE
Mutations of the transforming growth factor β-induced (TGFBI) gene were studied in a Chinese family with Reis-Bücklers corneal dystrophy (RBCD).


METHODS
Six family members with RBCD and six unaffected family members were investigated. The pedigree  showed a typical dominant inheritance pattern. Genomic DNA was extracted from peripheral leucocytes from all study participants. Exons 4, 12 and 14 of the TGFBI gene were analysed using polymerase chain reaction, and standard automated sequencing was performed. Corneal tissue sampled  from the proband during phototherapeutic keratectomy was examined using transmission electron microscopy (TEM).


RESULTS
A typical geographical pattern of fine opacities in Bowman's layer of the cornea was seen in all six patients on slit-lamp examination. An Arg555Gln (R555Q) mutation of  the TGFBI gene was identified in all six patients but was absent in all unaffected family members. TEM revealed rod-shaped bodies in Bowman's layer of the cornea.


CONCLUSIONS
In this Chinese family an R555Q mutation of the TGFBI gene was associated with RBCD. As the RBCD phenotype  is usually associated with an R124L mutation, this novel genotype-phenotype correlation may prompt further investigation of Bowman's layer corneal dystrophy.
National Ministry of Health Key Laboratory of Myopia, Eye and ENT Hospital Affiliated to Fudan University, Shanghai, China.
M Z
MZ
Piao
X T
XT
Zhou
L C
LC
Wu
R Y
RY
Chu
D001120:Arginine / Q000235:genetics*; D001483:Base Sequence; D002681:China; D003317:Corneal Dystrophies, Hereditary / Q000235:genetics*; D017931:DNA Primers; D005091:Exons; D005260:Female; D005998:Glycine / Q000235:genetics*; D006801:Humans; D008297:Male; D046529:Microscopy, Electron, Transmission; D010375:Pedigree; D017354:Point Mutation; D016133:Polymerase Chain Reaction; D053773:Transforming Growth Factor beta1 / Q000235:genetics*
D017931:DNA Primers; D053773:Transforming Growth Factor beta1; D001120:Arginine; D005998:Glycine