ClinGen Dosage Sensitivity Curation Page

FOXC1

  • Curation Status: Complete

Location Information

Select assembly: (NC_000006.11) (NC_000006.12)
Evidence for haploinsufficiency phenotype
PubMed ID Description
11170889 Nishimura (2001): Analyzed FOXC1 in 70 probands with congenital anterior chamber defects using SSCP and sequence-based analyses. They identified a total of 9 mutations, 8 of which were novel. Of these, five mutations caused a translational-reading-frame alteration that result in premature termination.
10713890 Mirzayans (2000): Identified a C67T mutation (E23X) in FOXC1 that segregated with the phenotype in a 3-generation family with 9 affected individuals with Axenfeld-Rieger syndrome. The mutation was not detected in over 80 control chromosomes.
18498376 Weisschuh (2008): Identified a C358T mutation (Q120X) in FOXC1 in 5 affected individuals in a 3-generation family with Peters' anomaly and ARS.

Haploinsufficiency phenotype comments:

Axenfeld-Rieger syndrome, type 3

Triplosensitivity phenotype comment:

iris hypoplasia; PMID: 11007653--Lehmann (2000): Identified a chromosomal duplication that involves FOXC1 and segregates with the phenotype in a multi-generation family with an AD form of iris hypoplasia and glaucoma. Chanda (2008) PMID 18694899 fine-mapped a series of duplications by microarray, including the duplication from the Lehmann 2000 report. The duplications included 3-4 genes, so these reports are not of single-gene duplications. 11170889--Nishimura (2001): Identified a duplication including FOXC1 in a family with 4 affected individuals (iris hypoplasia). The duplication segregated with disease. A second duplication including FOXC1 was identified in a second family with a proband with Peters anomaly. Since the duplication was not fine-mapped (this reference was not listed in the pedigree table in Chanda et al. 2008), it is unclear as to whether additional genes are involved in the duplication and are responsible for the phenotype. 12036988--Lehmann (2002): Identified a duplication including FOXC1 in a family with iris hypoplasia. Since the duplication was not fine-mapped (this reference was not listed in the pedigree table in Chanda et al. 2008), it is unclear as to whether additional genes are involved in the duplication and are responsible for the phenotype.