A screen for proteins that interact with PAX6: C-terminal mutations disrupt interaction with HOMER3, DNCL1 and TRIM11
PMID: 16098226
Gene: PAX6
Disease: Ocular dysgenesis
InheritancePattern: AD
11 Matching Annotations
- Oct 2026
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www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
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pubmed.ncbi.nlm.nih.gov pubmed.ncbi.nlm.nih.gov
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Foveal Hypoplasia Grading in 95 Cases of Congenital Aniridia: Correlation to Phenotype and PAX6 Genotype
PMID: 34942114
Variant NM_001368894.2:c.136C>G(p.Leu46Val)
Gene: PAX6
Disease: Ocular dysgenesis
InheritancePattern: AD
Notes Pub presents a variant with a diff AA change at position 46, p.L46Q vs the variant being curated which is p.L46V
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academic-oup-com.libproxy.lib.unc.edu academic-oup-com.libproxy.lib.unc.edu
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Missense mutation at the C-terminus of PAX6 negatively modulates homeodomain function
PMID: 11309364
Variant p.Q422R and p.P375Q
Gene: PAX6
Disease: Ocular dysgenesis
InheritancePattern: AD
Notes both p.q422R and p.P375Q had lower transcriptional activation of HD targeted sequences and lost binding to homeobox domain sequences in EMSA assay showing that the AA substitution constituted a loss of function for DNA binding with the homeobox DNA binding domain. Proband was positve for aniridia, foveal hypoplasia and cataracts in a 3yo girl.
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www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
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Three new PAX6 mutations including one causing an unusual ophthalmic phenotype associated with neurodevelopmental abnormalities
PMID: 17417613
Gene: PAX6
Variant c.-129+9G>A and c.136C>G
Disease: Ocular dysgenesis
MonDO: MONDO:0700246
InheritancePattern: AD
Notes p.Leu46Pro had microphthalmia, cataracts and nystagmus
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pubmed.ncbi.nlm.nih.gov pubmed.ncbi.nlm.nih.gov
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Activation of cryptic donor splice sites by non-coding and coding PAX6 variants contributes to congenital aniridia
PMID:
Gene: PAX6
Variant NM_000280.5:c.333C>A(p.Val111=)
Disease: Ocular dysgenesis
InheritancePattern: AD
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www-clinicalkey-com.libproxy.lib.unc.edu www-clinicalkey-com.libproxy.lib.unc.edu
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Screening of a large PAX6 cohort identified many novel variants and emphasises the importance of the paired and homeobox domains
PMID: 32360764
Variant NM_000280.5:c.333C>A(p.Val111=)
Gene: PAX6
Disease: Ocular dysgenesis
InheritancePattern: AD
Notes Proband with confirmed aniridia and confirmed de novo appearance of the variant, summary in table 1, proband information in the "splice variant" section. It is noted however that the authors do not include the parental genotype or phenotype data.
Clinical Lab The Wessex Regional Genetics Laboratory has been contacted for variants c.333C>A and c.1183G>C, there is no additional information than what is in the table and if familial or de novo is claimed it is because parental samples were collected and tested negative for the variant in the published proband
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link-springer-com.libproxy.lib.unc.edu link-springer-com.libproxy.lib.unc.edu
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Implication of non-coding PAX6 mutations in aniridia
PMID 30291432
MONDO MONDO:0800183
Notes minigene splicing assay for c.-128-2del that shows majority of transcript is one where exon 3 is skipped with some but greatly reduced canonical transcript levels
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www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
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Extension of the mutation spectrum of PAX6 from three Chinese congenital aniridia families and identification of male gonadal mosaicism
PMID: 30334364
Variant NM_000280.5:c.1123C>A (p.Pro375Thr)
Gene: PAX6
Disease: Ocular dysgenesis
InheritancePattern: AD
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www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
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Molecular analysis of the PAX6 gene in Mexican patients with congenital aniridia: report of four novel mutations
PMID: 18776953
Gene: PAX6
Variant c.-129+9G>A
Disease: Ocular dysgenesis
MonDO: MONDO:0700246
InheritancePattern: AD
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www-sciencedirect-com.libproxy.lib.unc.edu www-sciencedirect-com.libproxy.lib.unc.edu
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A novel missense mutation (Leu46Val) of PAX6 found in an autistic patient
PMID: 19607881
Variant NM_001368894.2:c.136C>G(p.Leu46Val)
Gene: PAX6
Disease: Ocular dysgenesis
InheritancePattern: AD
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onlinelibrary-wiley-com.libproxy.lib.unc.edu onlinelibrary-wiley-com.libproxy.lib.unc.edu
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A novel deletion (IVS11+3del4) identified in the human PAX6 gene in a patient with aniridia
PMID:
Gene: PAX6
Variant NM_000280.5:c.333C>A(p.Val111=)
Disease: Ocular dysgenesis
InheritancePattern: AD
Notes In Table 1. and Figure 3 there are nice illustrations of the consequences of this variant leading to a 27bp truncation in exon 6, in frame, which causes an AA deletion p.Cys112_Val120del version of PAX6. No patient phenotype data is available.
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