Variations in the WDR36 gene in German patients with normal tension glaucoma.
OBJECTIVE
To determine the prevalence of WDR36 sequence variants in a cohort of German patients with normal tension glaucoma.


METHODS
All of the 23 coding exons and flanking introns of the WDR36 gene were amplified by PCR from genomic DNA and subjected to denaturing high performance liquid chromatography. Samples with aberrant profiles were sequenced. In addition, restriction fragment length polymorphism analysis was performed in order to identify previously described nucleotide changes.


RESULTS
This study identified 11 nucleotide changes in the WDR36 gene that lead to predicted amino acid substitutions. Previously reported disease-causing mutations were found in 4% of patients (4/112) whereas sequence variants previously classified as disease-susceptibility mutations were found in 5% of patients (6/112). One nonsynonymous nucleotide change that has not been reported before was found in one patient. Mutation screening also identified several exonic and intronic polymorphisms.


CONCLUSIONS
The findings in the current study indicate that WDR36 gene variants may be only rare causes of normal tension glaucoma in the German population.
Weisschuh
Nicole
N
Molecular Genetics Laboratory, University Eye Hospital, Tuebingen, Germany. nicole.weisschuh@uni-tuebingen.de
Wolf
Christiane
C
Wissinger
Bernd
B
Gramer
Eugen
E
D000293:Adolescent; D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D019943:Amino Acid Substitution; D001483:Base Sequence; D015331:Cohort Studies; D005091:Exons; D005136:Eye Proteins / Q000235:genetics*; D005260:Female; D020022:Genetic Predisposition to Disease; D014644:Genetic Variation; D005858:Germany; D005901:Glaucoma / Q000235:genetics / Q000503:physiopathology*; D005902:Glaucoma, Open-Angle / Q000235:genetics; D006801:Humans; D007429:Intraocular Pressure; D007438:Introns; D008297:Male; D008875:Middle Aged; D009154:Mutation; D044465:White People / Q000235:genetics*
D005136:Eye Proteins; C502341:WDR36 protein, human