Dataset Information

Case series: Pyramidal cataracts, intact irides and nystagmus from three novel PAX6 mutations.

ABSTRACT: Purpose:To investigate the association between novel PAX6 mutations to bilateral anterior pyramidal congenital cataracts (APyC), complete and intact irides, and nystagmus. Observations:This is a retrospective observational case series in a multi-center setting with genetic testing. Three female patients were diagnosed with bilateral APyC, intact irides and nystagmus. Genetic testing identified the three patients had novel missense mutations in PAX6 - c.128C?>?T; p.Ser43Phe (S43F), c. 197T?>?A; p.Ile66Asn (I66N) and c.781C?>?G; p.Arg261Gly (R261G). Conclusions and importance:This study demonstrates a novel phenotype of bilateral APyC, intact irides, and nystagmus in whom genetic testing for PAX6 identified novel missense mutations (S43F, I66N, R261G) in highly conserved DNA-binding domains. Implications of understanding why the iris is present in these cases is discussed.

SUBMITTER: Chauhan BK

PROVIDER: S-EPMC5956696 | biostudies-literature | 2018 Jun

REPOSITORIES: biostudies-literature

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Publications

Case series: Pyramidal cataracts, intact irides and nystagmus from three novel <i>PAX6</i> mutations.

Chauhan Bharesh K BK Medsinge Anagha A Baumgartner Matthew P MP Scanga Hannah L HL Kamakari Smaragda S Gajdosova Eva E Camacho Carlos J CJ Nischal Ken K KK

American journal of ophthalmology case reports 20180228

<h4>Purpose</h4>To investigate the association between novel <i>PAX6</i> mutations to bilateral anterior pyramidal congenital cataracts (APyC), complete and intact irides, and nystagmus.<h4>Observations</h4>This is a retrospective observational case series in a multi-center setting with genetic testing. Three female patients were diagnosed with bilateral APyC, intact irides and nystagmus. Genetic testing identified the three patients had novel missense mutations in <i>PAX6</i> - c.128C > T; p.Se ...[more]

PMID: 29780932

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Project description:BackgroundCongenital cataract, a kind of cataract presenting at birth or during early childhood, is a leading cause of childhood blindness. To date, more than 30 genes on different chromosomes are known to cause this disorder. This study aimed to identify the HSF4 mutations in a cohort from Chinese families affected with congenital cataracts.MethodsForty-two unrelated non-syndromic congenital cataract families and 112 ethnically matched controls from southeast China were recruited from the southeast of China. We employed Sanger sequencing method to discover the variants. To confirm the novel mutations, STR haplotypes were constructed to check the co-segregation with congenital cataract. The pathogenic potential of the novel mutations were assessed using bioinformatics tools including SIFT, Polyphen2, and Human Splicing Finder. The pathogenicity of all the mutations was evaluated by the guidelines of American College of Medical Genetics and InterVar software.ResultsNo previously reported HSF4 mutations were found in all the congenital cataract families. Five novel HSF4 mutations including c.187 T > C (p.Phe63Leu), c.218G > T (p.Arg73Leu), c.233A > G (p.Tyr78Cys), IVS5 c.233-1G > A and c.314G > C (p.Ser105Thr) were identified in five unrelated families with congenital cataracts, respectively. These mutations co-segregated with all affected individuals in each family were not observed in the unaffected family members or in 112 unrelated controls. All five mutations were categorized to be the disease "pathogenic" according to ACMG guidelines and using InterVar software. Mutations in the HSF4 were responsible for 11.90% Chinese families with congenital cataracts in our cohort.ConclusionsIn the study, we identified five novel HSF4 mutations in Chinese families with congenital cataracts. Our results expand the spectrum of HSF4 mutations causing congenital cataracts, which may be helpful for the molecular diagnosis of congenital cataracts in the era of precision medicine.

Dataset Information

Case series: Pyramidal cataracts, intact irides and nystagmus from three novel PAX6 mutations.

Publications

Case series: Pyramidal cataracts, intact irides and nystagmus from three novel <i>PAX6</i> mutations.

Similar Datasets

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