Identification of a Homozygous PEX26 Mutation in a Heimler Syndrome Patient.

ABSTRACT: This study aimed to identify the molecular genetic etiology of an 8-year-old boy with amelogenesis imperfecta in permanent dentition. Bilateral cochlear implants were placed due to sensorineural hearing loss, and there was no other family member with a similar phenotype. Peripheral blood samples were collected with the understanding and written consent of the participating family members. A constitutional chromosome study was performed for the proband. Genomic DNA was isolated, and whole exome sequencing was performed. A series of bioinformatic analyses were performed with the obtained paired-end sequencing reads, and the variants were filtered and annotated with dbSNP147. There was no abnormality in the constitutional chromosome study. Whole exome sequencing analysis with trio samples ide

SUBMITTER: Kim YJ 

PROVIDER: S-EPMC8146857 | biostudies-literature | 2021 Apr

REPOSITORIES: biostudies-literature