Monogenic hearing loss
Gene: FOXF2
Comment on list classification: Promoting this gene from grey to amber. 1 case reported with segregation of the variants, plus some mouse model evidence.Created: 20 Sep 2020, 9:32 a.m. | Last Modified: 20 Sep 2020, 9:32 a.m.
Panel Version: 2.92
Not associated with a disease phenotype in OMIM.
PMID: 30561639 - Bademci et al 2019 - report a Turkish family with a 10 year old proband with congenital profound SNHL. The parents are first degree cousins with normal hearing. The proband has incomplete partition type I anomaly of the cochlea. Through WES a homozygous variant c.325A>T (p.I109F) in FOXF2 was identified. The parents are both heterozygous for this variant and the unaffected sister homozygous for the wild type allele. The variant was not seen in 1042 Turkish control individuals. A mouse knockout of Foxf2 shows shortened and malformed cochleae, in addition to altered shape of hair cells with innervation and planar cell polarity defects.
PMID: 22022403 - McKeone et al 2011 - look at mice with 5 sequence variants in the Foxf2 genomic DNA and provide evidence that it is a locus for anterior segment dysgenesis, and is essential for normal ciliary body formation.Created: 20 Sep 2020, 9:31 a.m. | Last Modified: 20 Sep 2020, 9:31 a.m.
Panel Version: 2.91
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
sensorineural hearing loss (SNHL)
Publications
Single family: variant has functional data to demonstrate effect on protein, plus mouse model supports gene-disease association.
Sources: LiteratureCreated: 2 May 2020, 2:22 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
profound sensorineural hearing loss (SNHL); cochlea malformations; incomplete partition type I anomaly of the cochlea
Publications
Gene: foxf2 has been classified as Amber List (Moderate Evidence).
gene: FOXF2 was added gene: FOXF2 was added to Hearing loss. Sources: Literature Mode of inheritance for gene: FOXF2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: FOXF2 were set to 30561639; 22022403 Phenotypes for gene: FOXF2 were set to profound sensorineural hearing loss (SNHL); cochlea malformations; incomplete partition type I anomaly of the cochlea Review for gene: FOXF2 was set to AMBER