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Maternal uniparental isodisomy of chromosome 6 unmasks a novel variant in TULP1 in a patient with early onset retinal dystrophy.
- Source :
-
Molecular vision [Mol Vis] 2018 Jul 21; Vol. 24, pp. 478-484. Date of Electronic Publication: 2018 Jul 21 (Print Publication: 2018). - Publication Year :
- 2018
-
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.<br />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.<br />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.<br />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.
- Subjects :
- Chromosomes, Human, Pair 6 chemistry
Electroretinography
Female
Gene Expression
Homozygote
Humans
Leber Congenital Amaurosis diagnosis
Leber Congenital Amaurosis pathology
Maternal Inheritance
Mutation
Myopia diagnosis
Myopia pathology
Night Blindness diagnosis
Night Blindness pathology
Nystagmus, Congenital diagnosis
Nystagmus, Congenital pathology
Retinitis Pigmentosa diagnosis
Retinitis Pigmentosa pathology
Young Adult
Eye Proteins genetics
Leber Congenital Amaurosis genetics
Myopia genetics
Night Blindness genetics
Nystagmus, Congenital genetics
Retinitis Pigmentosa genetics
Uniparental Disomy
Subjects
Details
- Language :
- English
- ISSN :
- 1090-0535
- Volume :
- 24
- Database :
- MEDLINE
- Journal :
- Molecular vision
- Publication Type :
- Academic Journal
- Accession number :
- 30090012