Exclusion of the human collagen type XVII (COL17A1) gene as the cause of Thiel-Behnke corneal dystrophy (CDB2) on chromosome 10q23-q25.
OBJECTIVE
Determination of the gene causing Thiel-Behnke Corneal Dystrophy (CDB2) would have important clinical implications. Previous studies in our laboratory have suggested that the COL17A1 gene may be the cause of Thiel-Behnke Corneal Dystrophy (CDB2) on Chromosome 10q23-q25.


METHODS
We evaluated a five-generation family with CDB2 mapped to chromosome 10. Many of these family members were diagnosed by slit-lamp microscopy. In addition, genomic DNA was isolated and purified from peripheral blood samples. The COL17A1 gene was screened for possible disease causing mutations by PCR and DNA sequencing analysis.


RESULTS
No disease-causing mutations were found in any of the 56 exons of the COL17A1 gene or in any of the flanking intron/exon junctions.


CONCLUSIONS
Mutations in the coding sequence of the human collagen XVII (COL17A1) gene are not the cause of CDB2.
Sullivan
Lori S
LS
Human Genetics Center, School of Public Health, The University of Texas Health Science Center at Houston, Houston, TX 77030, USA.
Zhao
Xinping
X
Bowne
Sara J
SJ
Xu
Xiangyang
X
Daiger
Stephen P
SP
Yee
Steven B
SB
Yee
Richard W
RW
D000225:Adenine; D001324:Autoantigens / Q000235:genetics*; D001483:Base Sequence / Q000235:genetics; D002352:Carrier Proteins; D002879:Chromosomes, Human, Pair 10 / Q000235:genetics*; D003094:Collagen / Q000235:genetics*; D003317:Corneal Dystrophies, Hereditary / Q000235:genetics*; D003598:Cytoskeletal Proteins; D000071821:Dystonin; D005091:Exons / Q000235:genetics; D014644:Genetic Variation / Q000235:genetics; D006801:Humans; D007438:Introns / Q000235:genetics; D009419:Nerve Tissue Proteins; D024041:Non-Fibrillar Collagens; D010375:Pedigree; D020641:Polymorphism, Single Nucleotide; D013941:Thymine; D000097805:Collagen Type XVII
D000225:Adenine; D001324:Autoantigens; D002352:Carrier Proteins; D003094:Collagen; D003598:Cytoskeletal Proteins; D000071821:Dystonin; D009419:Nerve Tissue Proteins; D024041:Non-Fibrillar Collagens; D013941:Thymine; D000097805:Collagen Type XVII; C486268:DST protein, human