Format

Send to

Choose Destination
Mol Genet Genomic Med. 2019 Aug;7(8):e774. doi: 10.1002/mgg3.774. Epub 2019 Jun 28.

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

Author information

1
Department of Ophthalmology, Flinders University, Flinders Medical Centre, Adelaide, South Australia, Australia.
2
SA Pathology, Flinders Medical Centre, Adelaide, South Australia, Australia.
3
Centre for Eye Research Australia, Royal Victorian Eye and Ear Hospital, University of Melbourne, Melbourne, Victoria, Australia.
4
Ophthalmology, Department of Surgery, University of Melbourne, Melbourne, Victoria, Australia.
5
Department of Ophthalmology, Royal Children's Hospital, Melbourne, Victoria, Australia.

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.

KEYWORDS:

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

Supplemental Content

Full text links

Icon for Wiley Icon for PubMed Central
Loading ...
Support Center