Maternal uniparental isodisomy of chromosome 6 unmasks a novel variant in TULP1 in a patient with early onset retinal dystrophy

Emmanuelle Souzeau, Jennifer A. Thompson, Terri L. McLaren, John N. De Roach, Christopher P. Barnett, Tina M. Lamey, Jamie Evan Craig

    Research output: Contribution to journalArticlepeer-review

    10 Citations (Scopus)


    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.

    Original languageEnglish
    Pages (from-to)478-484
    Number of pages7
    JournalMolecular Vision
    Publication statusPublished - 21 Jul 2018


    • Molecular diagnosis
    • Inherited
    • Leber congenital amaurosis
    • retinitis pigmentosa
    • retinal dystrophy
    • early onset
    • Maternal uniparental isodisomy


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