Heimler Syndrome With Tooth Agenesis, Abnormal Enamel and Dentin Mineralization, Root Maldevelopment, and PEX1 Mutation.

ABSTRACT: Biallelic variants in the PEX1 and PEX6 genes are implicated in Heimler syndrome, which is characterized by amelogenesis imperfecta, sensorineural hearing loss, retinitis pigmentosa, and nail defects. The objective of this study is to find the genetic variant and to analyze the teeth of a patient with Heimler syndrome. Clinical and radiographic examination and whole exome sequencing were performed on a Heimler syndrome patient and his parents. Scanning electron microscopy and micro-computed tomography were performed on a tooth. Immunohistochemical study of Pex1 was performed. Mutant protein models were made. The authors report an 18-year-old male with Heimler syndrome who carried a compound heterozygous (c.2966T>C; p.Ile989Thr and c.2097_2098insT; p.Ile700TyrfsTer42) mutation in the PEX1 g

SUBMITTER: Kantaputra PN 

PROVIDER: S-EPMC12172258 | biostudies-literature | 2025 Aug

REPOSITORIES: biostudies-literature