Evidence map›Paper›PMID 42156752›Full record

ArticleNPJ genomic medicine2026

Whole-genome sequencing uncovers diverse genetic causes and phenotypic signatures in infantile nystagmus and albinism.

Mahmoud R Fassad, Pradeep C Vasudevan, Julian Barwell, Gail DE Maconachie, Savita Madhusudhan, David Hunt, Irene Gottlob, Mariya Moosajee, Omar A Mahroo, Andrew R Webster and 2 more

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Article in NPJ genomic medicine, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

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1 · What the graph read from it

What it found

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2 · The registry

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3 · Its place in the literature

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4 · The record

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5 · Who and what money

Authors and funding

12 authors.

Mahmoud R FassadThe University of Leicester Ulverscroft Eye Unit, Robert Kilpatrick Clinical Sciences Building, School of Psychology and Vision Sciences, Leicester, UK. mf343@leicester.ac.uk.
Pradeep C VasudevanDepartment of Clinical Genetics, University Hospitals of Leicester NHS Trust, Leicester Royal Infirmary, Leicester, UK.
Julian BarwellDepartment of Clinical Genetics, University Hospitals of Leicester NHS Trust, Leicester Royal Infirmary, Leicester, UK.
Gail DE MaconachieSchool of Allied Health Professions, Nursing and Midwifery, The University of Sheffield, Yorkshire, UK.
Savita MadhusudhanSt. Paul's Eye Unit, Royal Liverpool University Hospital, Prescot Street, Liverpool, UK.
David HuntWessex Clinical Genetics Service, Princess Anne Hospital, University Hospital Southampton NHS Trust, Southampton, UK.
Irene GottlobThe University of Leicester Ulverscroft Eye Unit, Robert Kilpatrick Clinical Sciences Building, School of Psychology and Vision Sciences, Leicester, UK.
Mariya MoosajeeUCL Institute of Ophthalmology, University College London, London, UK.
Omar A MahrooUCL Institute of Ophthalmology, University College London, London, UK.
Andrew R WebsterUCL Institute of Ophthalmology, University College London, London, UK.
Michel MichaelidesUCL Institute of Ophthalmology, University College London, London, UK.
Mervyn G ThomasThe University of Leicester Ulverscroft Eye Unit, Robert Kilpatrick Clinical Sciences Building, School of Psychology and Vision Sciences, Leicester, UK. mt350@leicester.ac.uk.

Funding

Medical Research Council MC_PC_17171 and MC_PC_19043National Institute for Health and Care Research NIHR ACF-2022-11-004Wellcome Trust
6 · The paper itself

Abstract

We combined deep phenotype data and whole-genome sequencing results from the UK 100,000 Genomes Project (100KGP) to characterize the genetic spectrum of infantile nystagmus and albinism, and to explore genotype-phenotype correlations in this cohort. Participants were enrolled in the study based on the clinical codes for albinism or infantile nystagmus. Whole genome sequencing data was retrieved and variants in known nystagmus/albinism genes (PanelApp R39 panel) were analysed alongside genome-wide findings. We ascertained 473 affected individuals (388 families). Positive genetic findings were obtained in 218 participants (46%), including 176 (37%) with definitive diagnoses. Pathogenic variants were found in 16 of 38 panel genes, most commonly in TYR (56 families) and OCA2 (21 families). Recurrent variants (24% of 103 different variants) were identified in six genes. An additional 36 off-panel genes accounted for diagnoses in 45 families, including four dual genetic diagnoses in three families. Phenotypically, refractive errors and foveal hypoplasia-related diagnoses were significantly enriched (odds ratio ~2.8 for refractive disorders). Strabismus and neurodevelopmental features were also over-represented in the cohort. We show that whole-genome sequencing provided a high diagnostic yield in infantile nystagmus/albinism and uncovered a broad allelic spectrum. Integrating comprehensive phenotype data identified distinct genotype-phenotype relationships.

Identifiers

PMID42156752
PMCPMC13454288

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