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Whole exome sequence analysis of Peters anomaly

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Abstract

Peters anomaly is a rare form of anterior segment ocular dysgenesis, which can also be associated with additional systemic defects. At this time, the majority of cases of Peters anomaly lack a genetic diagnosis. We performed whole exome sequencing of 27 patients with syndromic or isolated Peters anomaly to search for pathogenic mutations in currently known ocular genes. Among the eight previously recognized Peters anomaly genes, we identified a de novo missense mutation in PAX6, c.155G>A, p.(Cys52Tyr), in one patient. Analysis of 691 additional genes currently associated with a different ocular phenotype identified a heterozygous splicing mutation c.1025+2T>A in TFAP2A, a de novo heterozygous nonsense mutation c.715C>T, p.(Gln239*) in HCCS, a hemizygous mutation c.385G>A, p.(Glu129Lys) in NDP, a hemizygous mutation c.3446C>T, p.(Pro1149Leu) in FLNA, and compound heterozygous mutations c.1422T>A, p.(Tyr474*) and c.2544G>A, p.(Met848Ile) in SLC4A11; all mutations, except for the FLNA and SLC4A11 c.2544G>A alleles, are novel. This is the first study to use whole exome sequencing to discern the genetic etiology of a large cohort of patients with syndromic or isolated Peters anomaly. We report five new genes associated with this condition and suggest screening of TFAP2A and FLNA in patients with Peters anomaly and relevant syndromic features and HCCS, NDP and SLC4A11 in patients with isolated Peters anomaly.

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Acknowledgments

The authors gratefully acknowledge the patients and their families for their participation in research studies. This work was supported by the National Institutes of Health awards R01EY015518 and funds provided by the Children’s Hospital of Wisconsin (EVS) and 1UL1RR031973 from the Clinical and Translational Science Award (CTSA) program.

Conflict of interest

The authors declare that they have no relevant financial conflict of interest.

Ethical standards

All experiments described comply with the current laws of the United States of America and the Declaration of Helsinki.

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Authors and Affiliations

  1. Department of Pediatrics and Children’s Research Institute, Medical College of Wisconsin, Milwaukee, WI, 53226, USA

    Eric Weh, Linda M. Reis, Hannah C. Happ & Elena V. Semina

  2. Cell Biology, Neurobiology and Anatomy Department, Medical College of Wisconsin, Milwaukee, WI, 53226, USA

    Eric Weh & Elena V. Semina

  3. Pediatric Ophthalmology and Ocular Genetics, Wills Eye Hospital, Philadelphia, PA, 19107, USA

    Alex V. Levin

  4. Nemours Children’s Clinic, Orlando, FL, 32806, USA

    Patricia G. Wheeler

  5. Division of Genetics, Department of Medicine, New York Methodist Hospital, Brooklyn, NY, 11215, USA

    Karen L. David & Erin Carney

  6. Department of Pediatrics, Northwestern University Feinberg School of Medicine and Ann & Robert H. Lurie Children’s Hospital of Chicago, Chicago, IL, 60611, USA

    Brad Angle

  7. Center for Human Genetics, UT Southwestern Medical Center, Dallas, TX, 75390, USA

    Natalie Hauser

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Correspondence to Elena V. Semina.

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Weh, E., Reis, L.M., Happ, H.C. et al. Whole exome sequence analysis of Peters anomaly. Hum Genet 133, 1497–1511 (2014). https://doi.org/10.1007/s00439-014-1481-x

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