RGD Reference Report - A family with Axenfeld-Rieger syndrome and Peters Anomaly caused by a point mutation (Phe112Ser) in the FOXC1 gene. - Rat Genome Database

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A family with Axenfeld-Rieger syndrome and Peters Anomaly caused by a point mutation (Phe112Ser) in the FOXC1 gene.

Authors: Honkanen, Robert A  Nishimura, Darryl Y  Swiderski, Ruth E  Bennett, Steven R  Hong, Sungpyo  Kwon, Young H  Stone, Edwin M  Sheffield, Val C  Alward, Wallace L M 
Citation: Honkanen RA, etal., Am J Ophthalmol. 2003 Mar;135(3):368-75.
RGD ID: 12904044
Pubmed: PMID:12614756   (View Abstract at PubMed)


PURPOSE: Mutations of the forkhead transcription factor gene FOXC1 result in anterior segment anomalies. No description of the spectrum of defects resulting from a single point mutation of this gene exists in the ophthalmology literature. We have screened all available patients with Axenfeld-Rieger genes (PITX2 and FOXC1). In this report, we clinically characterize the spectrum of ocular and systemic manifestations in one family resulting from a previously reported point mutation (Phe112Ser) in FOXC1.
DESIGN: Observational case series.
METHODS: Ten members of a multigenerational family were examined for signs of glaucoma, anterior segment abnormalities, and systemic features of Axenfeld-Rieger syndrome. The examinations were performed in an ophthalmology examination room or in the patients' homes. Blood was obtained from 10 members and screened for mutations in FOXC1 using direct DNA sequencing.
RESULTS: A single mutation causing a T to C change in codon 112 (Phe112Ser) of FOXC1 was present in six members of the family. Five of these six patients were examined and all demonstrated anterior segment anomalies. One patient had Axenfeld anomaly, one had Rieger syndrome, and one had both Axenfeld anomaly and Peters anomaly. Additionally, some members demonstrated cardiac abnormalities, which may be secondary to their FOXC1 mutation.
CONCLUSIONS: A wide spectrum of clinical phenotypes can result from a single point mutation of FOXC1. This report confirms that Rieger syndrome (with dental and facial abnormalities) can be caused by a mutation in FOXC1. It is also the first report of Peters anomaly being caused by a FOXC1 mutation.

RGD Manual Disease Annotations    Click to see Annotation Detail View
TermQualifierEvidenceWithReferenceNotesSourceOriginal Reference(s)
Axenfeld-Rieger syndrome  IAGP 12904044DNA:mutation:cds:p.F112S(human)RGD 
Axenfeld-Rieger syndrome  ISOFOXC1 (Homo sapiens)12904044; 12904044DNA:mutation:cds:p.F112S(human)RGD 

Phenotype Annotations    Click to see Annotation Detail View

Manual Human Phenotype Annotations - RGD

TermQualifierEvidenceWithReferenceNotesSourceOriginal Reference(s)
Posterior embryotoxon  IAGP 12904044DNA:mutation:cds:p.F112S(human)RGD 
Objects Annotated

Genes (Rattus norvegicus)
Foxc1  (forkhead box C1)

Genes (Mus musculus)
Foxc1  (forkhead box C1)

Genes (Homo sapiens)
FOXC1  (forkhead box C1)


Additional Information