Identification of a novel MYOC mutation, p.(Trp373), in a family with open angle glaucoma.
MYOC gene variants are associated with autosomal dominant primary open angle glaucoma (POAG). In this study, we describe a previously unreported MYOC variant segregating with a POAG phenotype in an Australian family. Two individuals affected with POAG and three unaffected individuals from the same family were recruited through the Australian and New Zealand Registry of Advanced Glaucoma (ANZRAG). Direct sequencing of all MYOC coding exons identified the novel heterozygous single nucleotide transition MYOC:c.1119G>A, p.(Trp373), predicted to encode an aberrant truncated MYOC protein in two affected siblings. Two unaffected siblings and an unaffected niece were negative for the MYOC sequence variant.
Department of Ophthalmology, Flinders University, Flinders Medical Centre, Adelaide, Australia.
April
A
Crawford
Department of Ophthalmology, Flinders University, Flinders Medical Centre, Adelaide, Australia. Electronic address: emmanuelle.souzeau@flinders.edu.au.
Emmanuelle
E
Souzeau
Prince of Wales Hospital, University of New South Wales, New South Wales, Australia; Broken Hill Hospital Ophthalmology Service, New South Wales, Australia.
Ashish
A
Agar
Department of Ophthalmology, Flinders University, Flinders Medical Centre, Adelaide, Australia.
Bronwyn
B
Ridge
SA Pathology, Flinders Medical Centre, Adelaide, Australia.
Andrew
A
Dubowsky
Department of Ophthalmology, Flinders University, Flinders Medical Centre, Adelaide, Australia; Menzies Research Institute Tasmania, University of Tasmania, Australia.
Kathryn P
KP
Burdon
Department of Ophthalmology, Flinders University, Flinders Medical Centre, Adelaide, Australia.
Jamie E
JE
Craig
D000368:Aged; D000369:Aged, 80 and over; D003062:Codon; D003598:Cytoskeletal Proteins / Q000235:genetics*; D004252:DNA Mutational Analysis; D005136:Eye Proteins / Q000235:genetics*; D005260:Female; D005902:Glaucoma, Open-Angle / Q000175:diagnosis / Q000235:genetics*; D006023:Glycoproteins / Q000235:genetics*; D006801:Humans; D008297:Male; D008875:Middle Aged; D009154:Mutation; D010375:Pedigree; D012160:Retina / Q000473:pathology; D041623:Tomography, Optical Coherence; D000099179:Myocilin
D003062:Codon; D003598:Cytoskeletal Proteins; D005136:Eye Proteins; D006023:Glycoproteins; D000099179:Myocilin
Genetic testing; Glaucoma; Myocilin; POAG