OFC syndrome

Definition:

Otofaciocervical syndrome (OFC) is an inherited disorder characterized by facial dysmorphism, external ear anomalies and hearing impairment, branchial cysts or fistulas, anomalies of the vertebrae and the shoulder girdle, and mild intellectual disability. OFC1, inherited as an autosomal dominant trait, is caused by mutations in the EYA1 gene. And OFC2, inherited as an autosomal recessive trait, is caused by mutations in the PAX1 gene.

References:

[1]. E Estefanía, et al. Point mutation of an EYA1-gene splice site in a patient with oto-facio-cervical syndrome. Ann Hum Genet. 2006 Jan;70(Pt 1):140-4. [Content Brief]

[2]. Esther Pohl, et al. A hypofunctional PAX1 mutation causes autosomal recessively inherited otofaciocervical syndrome. Hum Genet. 2013 Nov;132(11):1311-20. [Content Brief]

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