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Novel mutations of FOXC1 and PITX2 in patients with Axenfeld-Rieger malformations.
Invest Ophthalmol Vis Sci. 2006 Sep; 47(9):3846-52.IO

Abstract

PURPOSE

To determine the prevalence of FOXC1 and PITX2 mutations and to assess clinical phenotypes in a cohort of German patients with Axenfeld-Rieger malformations.

METHODS

All coding exons of the FOXC1 and PITX2 genes were amplified by PCR from genomic DNA and subjected to direct DNA sequencing. Analysis of mutations in control subjects was performed by restriction fragment length polymorphism (RFLP) analysis.

RESULTS

Sequence variants were identified by DNA sequencing in 15 of 19 cases. Mutation screening identified four potentially pathogenic FOXC1 mutations causing amino acid substitutions (P79R, Y115S, G149D, and M161V) that were not present in 100 control subjects. In addition, two different 1-bp deletions causing a frameshift and subsequent premature stop codon were identified in two subjects. One patient harbored a FOXC1 nonsense mutation (S48X). Mutation screening also identified two potentially pathogenic PITX2 mutations (P64L and P64R) in two index patients that were excluded in 100 healthy control subjects.

CONCLUSIONS

The findings in the present study clearly demonstrate that FOXC1 and PITX2 mutations are responsible for a significant proportion of Axenfeld-Rieger malformations in Germany.

Authors+Show Affiliations

Molecular Genetics Laboratory, University Eye Hospital, Tübingen, Germany. nicole.weisschuh@uni-tuebingen.deNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Journal Article

Language

eng

PubMed ID

16936096

Citation

Weisschuh, Nicole, et al. "Novel Mutations of FOXC1 and PITX2 in Patients With Axenfeld-Rieger Malformations." Investigative Ophthalmology & Visual Science, vol. 47, no. 9, 2006, pp. 3846-52.
Weisschuh N, Dressler P, Schuettauf F, et al. Novel mutations of FOXC1 and PITX2 in patients with Axenfeld-Rieger malformations. Invest Ophthalmol Vis Sci. 2006;47(9):3846-52.
Weisschuh, N., Dressler, P., Schuettauf, F., Wolf, C., Wissinger, B., & Gramer, E. (2006). Novel mutations of FOXC1 and PITX2 in patients with Axenfeld-Rieger malformations. Investigative Ophthalmology & Visual Science, 47(9), 3846-52.
Weisschuh N, et al. Novel Mutations of FOXC1 and PITX2 in Patients With Axenfeld-Rieger Malformations. Invest Ophthalmol Vis Sci. 2006;47(9):3846-52. PubMed PMID: 16936096.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Novel mutations of FOXC1 and PITX2 in patients with Axenfeld-Rieger malformations. AU - Weisschuh,Nicole, AU - Dressler,Paul, AU - Schuettauf,Frank, AU - Wolf,Christiane, AU - Wissinger,Bernd, AU - Gramer,Eugen, PY - 2006/8/29/pubmed PY - 2006/10/3/medline PY - 2006/8/29/entrez SP - 3846 EP - 52 JF - Investigative ophthalmology & visual science JO - Invest Ophthalmol Vis Sci VL - 47 IS - 9 N2 - PURPOSE: To determine the prevalence of FOXC1 and PITX2 mutations and to assess clinical phenotypes in a cohort of German patients with Axenfeld-Rieger malformations. METHODS: All coding exons of the FOXC1 and PITX2 genes were amplified by PCR from genomic DNA and subjected to direct DNA sequencing. Analysis of mutations in control subjects was performed by restriction fragment length polymorphism (RFLP) analysis. RESULTS: Sequence variants were identified by DNA sequencing in 15 of 19 cases. Mutation screening identified four potentially pathogenic FOXC1 mutations causing amino acid substitutions (P79R, Y115S, G149D, and M161V) that were not present in 100 control subjects. In addition, two different 1-bp deletions causing a frameshift and subsequent premature stop codon were identified in two subjects. One patient harbored a FOXC1 nonsense mutation (S48X). Mutation screening also identified two potentially pathogenic PITX2 mutations (P64L and P64R) in two index patients that were excluded in 100 healthy control subjects. CONCLUSIONS: The findings in the present study clearly demonstrate that FOXC1 and PITX2 mutations are responsible for a significant proportion of Axenfeld-Rieger malformations in Germany. SN - 0146-0404 UR - https://www.unboundmedicine.com/medline/citation/16936096/Novel_mutations_of_FOXC1_and_PITX2_in_patients_with_Axenfeld_Rieger_malformations_ L2 - https://iovs.arvojournals.org/article.aspx?doi=10.1167/iovs.06-0343 DB - PRIME DP - Unbound Medicine ER -