Heimler syndrome

Definition:

Heimler syndrome (HS) is a rare recessive disorder characterized by sensorineural hearing loss, amelogenesis imperfecta, nail abnormalities, and occasional or late-onset retinal pigmentation. It has been reported that HS is caused by hypomorphic mutations in the peroxisome biogenesis genes PEX1 and PEX6. HS is considered the mildest end of Zellweger syndrome spectrum disorders.

References:

[1]. Ilham Ratbi, et al. Heimler Syndrome Is Caused by Hypomorphic Mutations in the Peroxisome-Biogenesis Genes PEX1 and PEX6. Am J Hum Genet. 2015 Oct 1;97(4):535-45. [Content Brief]

[2]. Maria Rosaria Barillari, et al. Mild form of Zellweger Spectrum Disorders (ZSD) due to variants in PEX1: Detailed clinical investigation in a 9-years-old female. Mol Genet Metab Rep. 2020 Jun 20;24:100615. [Content Brief]

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