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Patient Stories

November 12, 2012 by alexa

Below are some links to patient stories that may answer questions that are less related to learning about the genetic aspects of CES. Please keep in mind that personal experiences with CES will differ between individuals. All stories were found in the public domain and were not prepared by PFOND. 5 yr old, Becca

Update: CECR2 gene characterization

November 12, 2012 by alexa

The CECR2 candidate gene has previously been characterized as a chromatin remodeller. Fairbridge et al. suggests that CECR2 has a “role in [the regulation of] mesenchymal and ectodermal transcription factors” [1]. Their study on mice demonstrated that 74% of mutations resulted in exencephaly with expression in the brain, spinal ganglia, and lens during development. Further … Continue reading

Candidate gene for CES being investigated

June 1, 2012 by alexa

In 2000, an article published in Genomics detailed how the over-expression of the gene CECR1 in cells could be the cause of many CES phenotypic features. is known to be a common cause of diseases. The identification of CES genes will improve diagnosis and treatment methods. References Riazi MA, et al.,. The human homolog of … Continue reading

Inherited mosaicism for the supernumerary marker chromosome in cat eye syndrome: Inter- and intra-individual variation and correlation to the phenotype.

April 15, 2012 from pubmed: cat eye syndrome

Inherited mosaicism for the supernumerary marker chromosome in cat eye syndrome: Inter- and intra-individual variation and correlation to the phenotype.
Am J Med Genet A. 2012 Apr 11;
Authors: Kvarnung M, Lindstrand A, Malmg… Continue reading

A 600 kb triplication in the cat eye syndrome critical region causes anorectal, renal and preauricular anomalies in a three-generation family.

March 26, 2012 from pubmed: cat eye syndrome

A 600 kb triplication in the cat eye syndrome critical region causes anorectal, renal and preauricular anomalies in a three-generation family.
Eur J Hum Genet. 2012 Mar 7;
Authors: Knijnenburg J, van Bever Y, Hulsman LO, v… Continue reading