Pohl et al. (2013) studied a large consanguineous Turkish family segregating autosomal recessive otofaciocervical syndrome, with 4 affected members from 2 different branches of the family. All affected individuals presented with cup-shaped ears, bilateral mixed hearing loss, bilateral ... Pohl et al. (2013) studied a large consanguineous Turkish family segregating autosomal recessive otofaciocervical syndrome, with 4 affected members from 2 different branches of the family. All affected individuals presented with cup-shaped ears, bilateral mixed hearing loss, bilateral preauricular fistulas, lacrimal duct abnormalities, commissural lip clefting, retrognathia, protruding shoulders, and winged scapulae. The index patient was a boy with moderately delayed motor and mental milestones who had long eyelashes, blue sclerae, downslanting palpebral fissures, malocclusion and dental caries, tapering fingers with bilateral clinodactyly, and bilateral cutaneous syndactyly of the second and third toes. Bone x-rays showed anterior scalloping of the lower thoracic and lumbar vertebral bodies and a fusion defect in L5/S1. Brain MRI revealed periventricular white matter gliosis and bilateral mastoiditis. Pohl et al. (2013) stated that the clinical findings of all affected family members were consistent with a diagnosis of OFC syndrome.
By whole-exome sequencing in affected members of a large consanguineous Turkish family segregating autosomal recessive OFC syndrome, Pohl et al. (2013) identified homozygosity for a missense variant in the PAX1 gene (G166V; 167411.0001). Sanger sequencing confirmed that homozygosity ... By whole-exome sequencing in affected members of a large consanguineous Turkish family segregating autosomal recessive OFC syndrome, Pohl et al. (2013) identified homozygosity for a missense variant in the PAX1 gene (G166V; 167411.0001). Sanger sequencing confirmed that homozygosity for the variant segregated with disease in the family, and the variant was not listed in more than 13,000 alleles from the Exome Variant Server database.