This website provides information on patients with mutations in the PAX1 gene, including clinical data, molecular data, management, and research options.

The otofaciocervical syndrome type 2 is caused by biallelic likely pathogenic/pathogenic variants in the PAX1 gene is a multisystem disorder characterized by ear malformations (external/middle/inner ear), facial dysmorphism, skeletal abnormalities (shoulder girdle abnormalities, kyphosis, scoliosis, vertebral anomalies), hearing loss, hypoparathyroidism, variable intellectual disability, and variable immunodeficiency.

Both parents being heterozygous for the PAX1 gene pathogenic variants are usually normal and healthy. Recently, heterozygous pathogenic variants in PAX1 gene have been described in patients with oculo-auriculo-vertebral syndrome and otofaciocervical syndrome 2 phenotypes suggestive of autosomal dominant pattern of inheritance. Autosomal dominant form of otofaciocervical syndrome (labelled as otofaciocervical syndrome type 1) has been reported to be caused by monoallelic pathogenic variants in EYA1 gene.

Not all individuals with a mutation in the PAX1 gene have these features.

This website was created to share and collect information about clinic, management and research projects to gather more knowledge and provide better treatment of patients with mutations in the PAX1 gene.


S J Patil, MD, DM, Mazumdar Shaw Medical Centre, Narayana Hrudayalaya Hospitals, Bengaluru, India, drsjpatil@gmail.com