ArticleScientific reports2019
Clinical and genetic variability in children with partial albinism.
Article in Scientific reports, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 23 papers.
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Who cites it
23 citing papers in PubMed, 44 citations in OpenAlex.
- Diagnostic discovery of structural variants causing foveal hypoplasia using SVRare and long-read nanopore sequencing.European journal of human genetics : EJHG · 2026Article
- Characterization of a novel SERPINA1 variant carrying two missense mutations: molecular mechanisms and functional impact.Orphanet journal of rare diseases · 2025Article
- Human recombinant tyrosinase destabilization caused by the double mutation R217Q/R402Q.Protein science : a publication of the Protein Society · 2025Article
- Transcriptomic and Proteomic Insights into Host Immune Responses in Pediatric Severe Malarial Anemia: Dysregulation in HSP60-70-TLR2/4 Signaling and Altered Glutamine Metabolism.Pathogens (Basel, Switzerland) · 2024Article
- Common Variants in theBiomedicines · 2024Article
- The co-occurrence of genetic variants in the TYR and OCA2 genes confers susceptibility to albinism.Nature communications · 2024Article
- Genotype-Phenotype Correlation Model for the Spectrum ofDiagnostics (Basel, Switzerland) · 2024Article
- After an initial Hermansky-Pudlak syndrome clinical diagnosis, molecular testing reveals variants for oculocutaneous albinism type 1B: A case report.Molecular genetics & genomic medicine · 2024Article
- Limited Added Diagnostic Value of Whole Genome Sequencing in Genetic Testing of Inherited Retinal Diseases in a Swiss Patient Cohort.International journal of molecular sciences · 2024Article
- ClinGen guidance for use of the PP1/BS4 co-segregation and PP4 phenotype specificity criteria for sequence variant pathogenicity classification.American journal of human genetics · 2024Article
- A Slc38a8 Mouse Model of FHONDA Syndrome Faithfully Recapitulates the Visual Deficits of Albinism Without Pigmentation Defects.Investigative ophthalmology & visual science · 2023Article
- Abnormal foveal morphology in carriers of oculocutaneous albinism.The British journal of ophthalmology · 2023Observational
- Article
- Expanding the Spectrum of Oculocutaneous Albinism: Does Isolated Foveal Hypoplasia Really Exist?International journal of molecular sciences · 2022Article
- The contribution of common regulatory and protein-coding TYR variants to the genetic architecture of albinism.Nature communications · 2022Article
- DECIPHER: Supporting the interpretation and sharing of rare disease phenotype-linked variant data to advance diagnosis and research.Human mutation · 2022Review
- Evidence that the Ser192Tyr/Arg402Gln in cis Tyrosinase gene haplotype is a disease-causing allele in oculocutaneous albinism type 1B (OCA1B).NPJ genomic medicine · 2022Article
- The Phenotypic and Mutational Spectrum of the FHONDA Syndrome and Oculocutaneous Albinism: Similarities and Differences.Investigative ophthalmology & visual science · 2022Article
- Homozygous single nucleotide duplication of SLC38A8 in autosomal recessive foveal hypoplasia: The first Japanese case report.Documenta ophthalmologica. Advances in ophthalmology · 2021Article
- Clinical utility gene card for oculocutaneous (OCA) and ocular albinism (OA)-an update.European journal of human genetics : EJHG · 2021Article
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17 authors at 5 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Individuals who have ocular features of albinism and skin pigmentation in keeping with their familial background present a considerable diagnostic challenge. Timely diagnosis through genomic testing can help avert diagnostic odysseys and facilitates accurate genetic counselling and tailored specialist management. Here, we report the clinical and gene panel testing findings in 12 children with presumed ocular albinism. A definitive molecular diagnosis was made in 8/12 probands (67%) and a possible molecular diagnosis was identified in a further 3/12 probands (25%). TYR was the most commonly mutated gene in this cohort (75% of patients, 9/12). A disease-causing TYR haplotype comprised of two common, functional polymorphisms, TYR c.[575 C > A;1205 G > A] p.[(Ser192Tyr);(Arg402Gln)], was found to be particularly prevalent. One participant had GPR143-associated X-linked ocular albinism and another proband had biallelic variants in SLC38A8, a glutamine transporter gene associated with foveal hypoplasia and optic nerve misrouting without pigmentation defects. Intriguingly, 2/12 individuals had a single, rare, likely pathogenic variant in each of TYR and OCA2 - a significant enrichment compared to a control cohort of 4046 individuals from the 100,000 genomes project pilot dataset. Overall, our findings highlight that panel-based genetic testing is a clinically useful test with a high diagnostic yield in children with partial/ocular albinism.
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