ArticleEuropean journal of human genetics : EJHG2016
Novel mutations in PAX6, OTX2 and NDP in anophthalmia, microphthalmia and coloboma.
Article in European journal of human genetics : EJHG, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 47 papers.
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Who cites it
47 citing papers in PubMed, 88 citations in OpenAlex.
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- Exploring the molecular basis of microphthalmia and anophthalmia: Insights from an Egyptian cohort.Molecular vision · 2026Article
- Structural birth defects and leukemia risk in children with Down syndrome.Scientific reports · 2025Article
- Genotypic and phenotypic spectrum of anophthalmia/microphthalmia in families from Khyber Pakhtunkhwa, Pakistan.Journal of human genetics · 2025Article
- State of the Art on Inherited Retinal Dystrophies: Management and Molecular Genetics.Journal of clinical medicine · 2025Review
- Genetic Analysis ofBiomedicines · 2025Article
- Itpka depletion implicates defects in anterior neural development ofFrontiers in cell and developmental biology · 2025Article
- Deletion upstream of MAB21L2 highlights the importance of evolutionarily conserved non-coding sequences for eye development.Nature communications · 2024Article
- Non-syndromic OTX2-associated pattern dystrophy: a 10-year multimodal imaging study.Documenta ophthalmologica. Advances in ophthalmology · 2024Article
- The Systemic Genotype-Phenotype Characterization of PAX6-Related Eye Disease in 164 Chinese Families.Investigative ophthalmology & visual science · 2024Article
- Prdm15 acts upstream of Wnt4 signaling in anterior neural development ofFrontiers in cell and developmental biology · 2024Article
- ARHGAP35 is a novel factor disrupted in human developmental eye phenotypes.European journal of human genetics : EJHG · 2023Article
- Distinct Roles of Histone Lysine Demethylases and Methyltransferases in Developmental Eye Disease.Genes · 2023Article
- Review
- Cell fate decisions, transcription factors and signaling during early retinal development.Progress in retinal and eye research · 2022Review
- Exome sequencing identifies genetic variants in anophthalmia and microphthalmia.American journal of medical genetics. Part A · 2022Article
- Spectrum of Mutations inFrontiers in genetics · 2022Review
- Article
- The Ribosomal Protein L5 Functions DuringFrontiers in cell and developmental biology · 2022Article
- Identification of missense MAB21L1 variants in microphthalmia and aniridia.Human mutation · 2021Article
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Authors and funding
6 authors at 3 institutions in 2 countries.
Funding
Abstract
Anophthalmia and microphthalmia (A/M) are developmental ocular malformations defined as the complete absence or reduction in size of the eye. A/M is a highly heterogeneous disorder with SOX2 and FOXE3 playing major roles in dominant and recessive pedigrees, respectively; however, the majority of cases lack a genetic etiology. We analyzed 28 probands affected with A/M spectrum (without mutations in SOX2/FOXE3) by whole-exome sequencing. Analysis of 83 known A/M factors identified pathogenic/likely pathogenic variants in PAX6, OTX2 and NDP in three patients. A novel heterozygous likely pathogenic variant in PAX6, c.767T>C, p.(Val256Ala), was identified in two brothers with bilateral microphthalmia, coloboma, primary aphakia, iris hypoplasia, sclerocornea and congenital glaucoma; the unaffected mother appears to be a mosaic carrier. While A/M has been reported as a rare feature, this is the first report of congenital primary aphakia in association with PAX6 and the identified allele represents the first variant in the PAX6 homeodomain to be associated with A/M. A novel pathogenic variant in OTX2, c.651delC, p.(Thr218Hisfs*76), in a patient with syndromic bilateral anophthalmia and a hemizygous pathogenic variant in NDP, c.293 C>T, p.(Pro98Leu), in two brothers with isolated bilateral microphthalmia and sclerocornea were also identified. Pathogenic/likely pathogenic variants were not discovered in the 25 remaining A/M cases. This study underscores the utility of whole-exome sequencing for identification of causative mutations in highly variable ocular phenotypes as well as the extreme genetic heterogeneity of A/M conditions.
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