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A novel mutation in the FOXC1 gene in a family with Axenfeld-Rieger syndrome and Peters' anomaly.
Clin Genet. 2008 Nov; 74(5):476-80.CG

Abstract

Peters anomaly and Axenfeld-Rieger syndrome (ARS) belong to the overlapping spectrum of disorders summarized as anterior segment dysgenesis (ASD). Five patients from a family with Peters' anomaly and ARS were screened for mutations in the PITX2, CYP1B1 and FOXC1 genes by direct sequencing. All affected family members examined were heterozygous for a single nucleotide substitution, resulting in a nonsense mutation (Q120X) at a highly conserved residue of the FOXC1 gene that is essential for DNA binding. In this pedigree, all affected family members were diagnosed with ARS except for one who shows bilateral Peters' anomaly. Our findings support the role of FOXC1 mutations in the spectrum of ASD.

Authors+Show Affiliations

Molecular Genetics Laboratory, Institute for Ophthalmic Research, University Clinics Tuebingen, Tuebingen, Germany. nicole.weisschuh@uni-tuebingen.deNo affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Journal Article

Language

eng

PubMed ID

18498376

Citation

Weisschuh, N, et al. "A Novel Mutation in the FOXC1 Gene in a Family With Axenfeld-Rieger Syndrome and Peters' Anomaly." Clinical Genetics, vol. 74, no. 5, 2008, pp. 476-80.
Weisschuh N, Wolf C, Wissinger B, et al. A novel mutation in the FOXC1 gene in a family with Axenfeld-Rieger syndrome and Peters' anomaly. Clin Genet. 2008;74(5):476-80.
Weisschuh, N., Wolf, C., Wissinger, B., & Gramer, E. (2008). A novel mutation in the FOXC1 gene in a family with Axenfeld-Rieger syndrome and Peters' anomaly. Clinical Genetics, 74(5), 476-80. https://doi.org/10.1111/j.1399-0004.2008.01025.x
Weisschuh N, et al. A Novel Mutation in the FOXC1 Gene in a Family With Axenfeld-Rieger Syndrome and Peters' Anomaly. Clin Genet. 2008;74(5):476-80. PubMed PMID: 18498376.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - A novel mutation in the FOXC1 gene in a family with Axenfeld-Rieger syndrome and Peters' anomaly. AU - Weisschuh,N, AU - Wolf,C, AU - Wissinger,B, AU - Gramer,E, Y1 - 2008/05/21/ PY - 2008/5/24/pubmed PY - 2008/12/17/medline PY - 2008/5/24/entrez SP - 476 EP - 80 JF - Clinical genetics JO - Clin Genet VL - 74 IS - 5 N2 - Peters anomaly and Axenfeld-Rieger syndrome (ARS) belong to the overlapping spectrum of disorders summarized as anterior segment dysgenesis (ASD). Five patients from a family with Peters' anomaly and ARS were screened for mutations in the PITX2, CYP1B1 and FOXC1 genes by direct sequencing. All affected family members examined were heterozygous for a single nucleotide substitution, resulting in a nonsense mutation (Q120X) at a highly conserved residue of the FOXC1 gene that is essential for DNA binding. In this pedigree, all affected family members were diagnosed with ARS except for one who shows bilateral Peters' anomaly. Our findings support the role of FOXC1 mutations in the spectrum of ASD. SN - 1399-0004 UR - https://www.unboundmedicine.com/medline/citation/18498376/A_novel_mutation_in_the_FOXC1_gene_in_a_family_with_Axenfeld_Rieger_syndrome_and_Peters'_anomaly_ L2 - https://doi.org/10.1111/j.1399-0004.2008.01025.x DB - PRIME DP - Unbound Medicine ER -