Primary congenital glaucoma due to paternal uniparental isodisomy of chromosome 2 and CYP1B1 deletion

Molecular Genetics & Genomic Medicine

Jonathan B. Ruddle¹  Emmanuelle Souzeau²  Jamie E. Craig²  Andrew Dubowsky³ 

[1] Centre for Eye Research Australia, Royal Victorian Eye and Ear Hospital University of Melbourne Melbourne Victoria Australia;Department of Ophthalmology Flinders University, Flinders Medical Centre Adelaide South Australia Australia;SA Pathology Flinders Medical Centre Adelaide South Australia Australia;

关键词: childhood glaucoma;    chromosome 2;    CYP1B1;    gene deletion;    primary congenital glaucoma;    uniparental disomy;   

DOI  :  10.1002/mgg3.774

来源: DOAJ

【 摘 要 】

Abstract Background CYP1B1 variants and deletions are the most common cause of primary congenital glaucoma (PCG). Methods We investigated an individual with PCG from the Australian and New Zealand Registry of Advanced Glaucoma. We performed sequencing of the CYP1B1 gene, followed by Multiplex Ligation‐dependent Probe Amplification and SNP array. Results We identified a homozygous deletion of the CYP1B1 gene by Multiplex Ligation‐dependent Probe Amplification and confirmed that the father was heterozygous for a CYP1B1 deletion but the mother had normal gene copy number. SNP array identified paternal uniparental isodisomy of the entire chromosome 2. Conclusions This study is the first report of a homozygous CYP1B1 whole gene deletion due to paternal uniparental isodisomy of chromosome 2 as a cause of PCG. These results illustrate the importance of genetic testing in providing appropriate genetic counseling regarding the risks of recurrence.

【 授权许可】

Unknown