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.
journal_name
Mol Genet Genomic Medjournal_title
Molecular genetics & genomic medicineauthors
Souzeau E,Dubowsky A,Ruddle JB,Craig JEdoi
10.1002/mgg3.774subject
Has Abstractpub_date
2019-08-01 00:00:00pages
e774issue
8issn
2324-9269journal_volume
7pub_type
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pub_type: 临床试验,杂志文章
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