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Unique noncoding variants upstream of PRDM13 are associated with a spectrum of developmental retinal dystrophies including progressive bifocal chorioretinal atrophy

Silva, RS; Arno, G; Cipriani, V; Pontikos, N; Defoort-Dhellemmes, S; Kalhoro, A; Carss, KJ; ... Webster, AR; + view all (2019) Unique noncoding variants upstream of PRDM13 are associated with a spectrum of developmental retinal dystrophies including progressive bifocal chorioretinal atrophy. Human Mutation , 40 (5) pp. 578-587. 10.1002/humu.23715. Green open access

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Abstract

The autosomal dominant progressive bifocal chorioretinal atrophy (PBCRA) disease locus has been mapped to chromosome 6q14–16.2 which overlaps the North Carolina Macular Dystrophy (NCMD) locus MCDR1. NCMD is a non‐progressive developmental macular dystrophy, in which variants upstream of PRDM13 have been implicated. Whole genome sequencing was performed to interrogate structural variants (SVs) and single nucleotide variants (SNVs) in eight individuals, six affected individuals from two families with PBCRA and two individuals from an additional family with a related developmental macular dystrophy. A SNV (chr6:100,046,804 T > C), located 7.8 kb upstream of the PRDM13 gene, was shared by all PBCRA‐affected individuals in the disease locus. Haplotype analysis suggested that the variant arose independently in the two families. The two affected individuals from family 3, were screened for rare variants in the PBCRA and NCMD loci. This revealed a de novo variant in the proband, 21 bp from the first SNV (chr6:100,046,783 A > C). This study expands the non‐coding variant spectrum upstream of PRDM13 and suggests altered spatio‐temporal expression of PRDM13 as a candidate disease mechanism in the phenotypically distinct but related conditions, NCMD and PBCRA.

Type: Article
Title: Unique noncoding variants upstream of PRDM13 are associated with a spectrum of developmental retinal dystrophies including progressive bifocal chorioretinal atrophy
Location: United States
Open access status: An open access version is available from UCL Discovery
DOI: 10.1002/humu.23715
Publisher version: https://doi.org/10.1002/humu.23715
Language: English
Additional information: This version is the author accepted manuscript. For information on re-use, please refer to the publisher’s terms and conditions.
Keywords: macular development, macular dystrophy, NCMD, PBCRA, PRDM13, whole genome sequencing
UCL classification: UCL
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Brain Sciences
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Brain Sciences > Institute of Ophthalmology
URI: https://discovery.ucl.ac.uk/id/eprint/10067652
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