Please use this identifier to cite or link to this item: https://hdl.handle.net/2440/120919
Type: Journal article
Title: Maternal uniparental isodisomy of chromosome 6 unmasks a novel variant in TULP1 in a patient with early onset retinal dystrophy
Author: Souzeau, E.
Thompson, J.
McLaren, T.
De Roach, J.
Barnett, C.
Lamey, T.
Craig, J.
Citation: Molecular Vision, 2018; 24:478-484
Publisher: National Center for Biotechnology Information, U.S. National Library of Medicine
Issue Date: 2018
ISSN: 1090-0535
1090-0535
Statement of
Responsibility: 
Emmanuelle Souzeau, Jennifer A. Thompson, Terri L. McLaren, John N. De Roach, Christopher P. Barnett, Tina M. Lamey, Jamie E. Craig
Abstract: Purpose: Inherited retinal dystrophies are a clinically and genetically heterogeneous group of disorders. Molecular diagnosis has proven utility for affected individuals. In this study, we report an individual enrolled in the Australian Inherited Retinal Disease Registry and DNA Bank diagnosed with clinical features overlapping between Leber congenital amaurosis and retinitis pigmentosa. Methods: DNA from the proband was sequenced using a gene panel for inherited retinal disorders, and a single nucleotide polymorphism (SNP) array was conducted to detect the presence of deletions and uniparental disomy. Results: We identified a novel homozygous variant (c.524dupC, p.(Pro176ThrfsTer7)) in TULP1 resulting from maternal uniparental isodisomy of chromosome 6. The patient had clinical features consistent with biallelic pathogenic variants in TULP1, including congenital nystagmus, night blindness, non-recordable electroretinogram, mild myopia, and mild peripheral pigmentary changes in the fundus. Conclusions: This is the first report of uniparental disomy 6 and a homozygous variant in TULP1 associated with a rod-cone dystrophy. Molecular diagnosis of inherited retinal dystrophies is essential to inform the mode of transmission and clinical management, and to identify potential candidates for future gene-specific therapies.
Keywords: Uniparental disomy
Rights: © 2018 Molecular Vision. This is an open-access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited, used for non-commercial purposes, and is not altered or transformed.
Grant ID: http://purl.org/au-research/grants/nhmrc/1116360
Published version: https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6066270/
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