Tags

Type your tag names separated by a space and hit enter

Novel CYP1B1 and known PAX6 mutations in anterior segment dysgenesis (ASD).
J Glaucoma. 2006 Dec; 15(6):499-504.JG

Abstract

PURPOSE

The study intended to define the underlying genetic defects for 21 index patients affected with different forms of anterior segment dysgenesis. Sequence analysis for the PAX6, PITX2, FOXC1, and CYP1B1 genes has been implemented for this purpose.

METHODS

Ten patients affected with Peters anomaly, 8 with Rieger anomaly, and 3 with aniridia were included in this study. All patients underwent a complete eye examination, including anterior segment evaluation, with slit-lamp microsocopy, fundoscopy, tonography, and gonioscopy. Twenty-one intronic primer pairs were used to amplify the coding exons of the FOXC1, CYP1B1, PITX2, and PAX6 genes for sequence analysis on an automated sequencer (ABI 3730).

RESULTS

We were able to detect mutations in 5 of 21 patients with anterior segment malformations. We found mutations in individuals suffering from Rieger anomaly and aniridia, in CYP1B1 and PAX6, respectively. None of the 10 Peters anomaly patients had causative mutations in any of the 4 genes we screened.

CONCLUSIONS

Our results suggest primary congenital glaucoma and the anterior segment dysgenesis disorders may share a common molecular pathophysiology in the CYP1B1 pathway.

Authors+Show Affiliations

Institute of Human Genetics, Schwabachanlage 10, 91054 Erlangen, Germany.No affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Journal Article
Research Support, Non-U.S. Gov't

Language

eng

PubMed ID

17106362

Citation

Chavarria-Soley, Gabriela, et al. "Novel CYP1B1 and Known PAX6 Mutations in Anterior Segment Dysgenesis (ASD)." Journal of Glaucoma, vol. 15, no. 6, 2006, pp. 499-504.
Chavarria-Soley G, Michels-Rautenstrauss K, Caliebe A, et al. Novel CYP1B1 and known PAX6 mutations in anterior segment dysgenesis (ASD). J Glaucoma. 2006;15(6):499-504.
Chavarria-Soley, G., Michels-Rautenstrauss, K., Caliebe, A., Kautza, M., Mardin, C., & Rautenstrauss, B. (2006). Novel CYP1B1 and known PAX6 mutations in anterior segment dysgenesis (ASD). Journal of Glaucoma, 15(6), 499-504.
Chavarria-Soley G, et al. Novel CYP1B1 and Known PAX6 Mutations in Anterior Segment Dysgenesis (ASD). J Glaucoma. 2006;15(6):499-504. PubMed PMID: 17106362.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Novel CYP1B1 and known PAX6 mutations in anterior segment dysgenesis (ASD). AU - Chavarria-Soley,Gabriela, AU - Michels-Rautenstrauss,Karin, AU - Caliebe,Almuth, AU - Kautza,Monika, AU - Mardin,Christian, AU - Rautenstrauss,Bernd, PY - 2006/11/16/pubmed PY - 2006/12/13/medline PY - 2006/11/16/entrez SP - 499 EP - 504 JF - Journal of glaucoma JO - J Glaucoma VL - 15 IS - 6 N2 - PURPOSE: The study intended to define the underlying genetic defects for 21 index patients affected with different forms of anterior segment dysgenesis. Sequence analysis for the PAX6, PITX2, FOXC1, and CYP1B1 genes has been implemented for this purpose. METHODS: Ten patients affected with Peters anomaly, 8 with Rieger anomaly, and 3 with aniridia were included in this study. All patients underwent a complete eye examination, including anterior segment evaluation, with slit-lamp microsocopy, fundoscopy, tonography, and gonioscopy. Twenty-one intronic primer pairs were used to amplify the coding exons of the FOXC1, CYP1B1, PITX2, and PAX6 genes for sequence analysis on an automated sequencer (ABI 3730). RESULTS: We were able to detect mutations in 5 of 21 patients with anterior segment malformations. We found mutations in individuals suffering from Rieger anomaly and aniridia, in CYP1B1 and PAX6, respectively. None of the 10 Peters anomaly patients had causative mutations in any of the 4 genes we screened. CONCLUSIONS: Our results suggest primary congenital glaucoma and the anterior segment dysgenesis disorders may share a common molecular pathophysiology in the CYP1B1 pathway. SN - 1057-0829 UR - https://www.unboundmedicine.com/medline/citation/17106362/Novel_CYP1B1_and_known_PAX6_mutations_in_anterior_segment_dysgenesis__ASD__ L2 - https://doi.org/10.1097/01.ijg.0000243467.28590.6a DB - PRIME DP - Unbound Medicine ER -