Abstract | Purpose: 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:
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Authors | Emmanuelle Souzeau, Jennifer A Thompson, Terri L McLaren, John N De Roach, Christopher P Barnett, Tina M Lamey, Jamie E Craig |
Journal | Molecular vision
(Mol Vis)
Vol. 24
Pg. 478-484
( 2018)
ISSN: 1090-0535 [Electronic] United States |
PMID | 30090012
(Publication Type: Case Reports, Journal Article, Research Support, Non-U.S. Gov't)
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Chemical References |
- Eye Proteins
- TULP1 protein, human
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Topics |
- Chromosomes, Human, Pair 6
(chemistry)
- Electroretinography
- Eye Proteins
(genetics)
- Female
- Gene Expression
- Homozygote
- Humans
- Leber Congenital Amaurosis
(diagnosis, genetics, pathology)
- Maternal Inheritance
- Mutation
- Myopia
(diagnosis, genetics, pathology)
- Night Blindness
(diagnosis, genetics, pathology)
- Nystagmus, Congenital
(diagnosis, genetics, pathology)
- Retinitis Pigmentosa
(diagnosis, genetics, pathology)
- Uniparental Disomy
- Young Adult
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