Prevalence of myocilin and optineurin sequence variants in German normal tension glaucoma patients.
OBJECTIVE
To determine the prevalence of optineurin (OPTN) and myocilin (MYOC) sequence variants in a cohort of German patients with normal tension glaucoma.


METHODS
All coding exons of the OPTN and MYOC genes were amplified by PCR from genomic DNA and subjected to direct DNA sequencing. Analysis of sequence variants in controls was done by denaturing high performance liquid chromatography (DHPLC) and restriction fragment length polymorphism (RFLP) analysis.


RESULTS
Sequence variants were identified by DNA sequencing in 10 of 112 cases. The OPTN sequence variant M98K was found in seven patients. In addition, two novel sequence variants (A336G and A377T) in the OPTN gene were identified that were not present in a control group. Mutation screening also identified two potentially pathogenic MYOC mutations (T293K and A445V).


CONCLUSIONS
The findings in the current study provide further evidence that MYOC and OPTN gene variants are rare causes of NTG.
Weisschuh
Nicole
N
Molecular Genetics Laboratory, University Eye Hospital, University of Tuebingen, Tuebingen, Germany. nicole.weisschuh@uni-tuebingen.de
Neumann
Dorit
D
Wolf
Christiane
C
Wissinger
Bernd
B
Gramer
Eugen
E
D000293:Adolescent; D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D018797:Cell Cycle Proteins; D002851:Chromatography, High Pressure Liquid; D003598:Cytoskeletal Proteins / Q000235:genetics*; D005136:Eye Proteins / Q000235:genetics*; D005260:Female; D014644:Genetic Variation; D005858:Germany / Q000453:epidemiology; D005902:Glaucoma, Open-Angle / Q000208:ethnology / Q000235:genetics*; D006023:Glycoproteins / Q000235:genetics*; D006801:Humans; D007438:Introns / Q000235:genetics; D008297:Male; D026901:Membrane Transport Proteins; D008875:Middle Aged; D016133:Polymerase Chain Reaction; D012150:Polymorphism, Restriction Fragment Length; D015995:Prevalence; D017422:Sequence Analysis, DNA; D035582:Transcription Factor TFIIIA / Q000235:genetics*; D020506:Untranslated Regions / Q000235:genetics; D000099179:Myocilin
D018797:Cell Cycle Proteins; D003598:Cytoskeletal Proteins; D005136:Eye Proteins; D006023:Glycoproteins; D026901:Membrane Transport Proteins; D035582:Transcription Factor TFIIIA; D020506:Untranslated Regions; D000099179:Myocilin; C409460:OPTN protein, human