A novel case of Heimler syndrome in a young child with compound heterozygous PEX26 mutations: clinical and genetic insights with literature review.

Abstract excerpt

Heimler syndrome is an ultra-rare autosomal recessive disorder belonging to the spectrum of peroxisomal disorders. Heimler syndrome is characterized by sensorineural hearing loss, retinal dystrophy and dental anomalies. It is caused by hypomorphic mutations in peroxisomal biogenesis genes, namely PEX1, PEX6, PEX26, and PEX10. Fewer than 30 cases have been reported to date.We report the case of a male infant born...

Topics

• Humans
• Male
• Mutation
• Hearing Loss, Sensorineural
• Heterozygote
• ATPases Associated with Diverse Cellular Activities