{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,24]],"date-time":"2026-10-24T01:12:56Z","timestamp":1792804376745,"version":"4.5.0"},"reference-count":27,"publisher":"MDPI AG","issue":"5","license":[{"start":{"date-parts":[[2021,4,26]],"date-time":"2021-04-26T00:00:00Z","timestamp":1619395200000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"name":"National Research Foundation of Korea (NRF) grant","award":["NRF-2018R1A5A2024418"],"award-info":[{"award-number":["NRF-2018R1A5A2024418"]}],"id":[{"id":"https:\/\/ror.org\/013aysd81","id-type":"ROR","asserted-by":"crossref"}]},{"name":"National Research Foundation of Korea (NRF) grant","award":["NRF-2020R1A2C2100543"],"award-info":[{"award-number":["NRF-2020R1A2C2100543"]}],"id":[{"id":"https:\/\/ror.org\/013aysd81","id-type":"ROR","asserted-by":"crossref"}]},{"name":"grants from the Japan government (MEXT), Grants-in-Aid for Scientific Research","award":["JP19K07386, JP26116007, JP15K21743, JP17H03675"],"award-info":[{"award-number":["JP19K07386, JP26116007, JP15K21743, JP17H03675"]}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Genes"],"abstract":"<jats:p>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 identified a homozygous mutation (c.506T&gt;C, p. (Leu169Pro)) in the PEX26 gene. We verified \u201ctemperature sensitivity (ts)\u201d of patient-derived Pex26-L169P by expression in pex26 CHO mutant ZP167 cells to determine the effect of the L169P mutation on Pex26 function. The L169P mutation causes a mild ts-cellular phenotype representing the decreased peroxisomal import of catalase. This study supports the finding that the recessive mutations in PEX26 are associated with Heimler syndrome and demonstrates the importance of an early and correct diagnosis.<\/jats:p>","DOI":"10.3390\/genes12050646","type":"journal-article","created":{"date-parts":[[2021,4,27]],"date-time":"2021-04-27T02:31:43Z","timestamp":1619490703000},"page":"646","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":16,"title":["Identification of a Homozygous PEX26 Mutation in a Heimler Syndrome Patient"],"prefix":"10.3390","volume":"12","author":[{"given":"Youn Jung","family":"Kim","sequence":"first","affiliation":[{"name":"Department of Molecular Genetics, School of Dentistry &amp; DRI, Seoul National University, Seoul 03080, Korea"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yuichi","family":"Abe","sequence":"additional","affiliation":[{"name":"Faculty of Arts and Science, Kyushu University, Fukuoka 819-0315, Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Young-Jae","family":"Kim","sequence":"additional","affiliation":[{"name":"Department of Pediatric Dentistry, School of Dentistry &amp; DRI, Seoul National University, Seoul 03080, Korea"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yukio","family":"Fujiki","sequence":"additional","affiliation":[{"name":"Faculty of Arts and Science, Kyushu University, Fukuoka 819-0315, Japan"},{"name":"Institute of Rheological Functions of Food, Fukuoka 811-2501, Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-9399-2197","authenticated-orcid":false,"given":"Jung-Wook","family":"Kim","sequence":"additional","affiliation":[{"name":"Department of Molecular Genetics, School of Dentistry &amp; DRI, Seoul National University, Seoul 03080, Korea"},{"name":"Department of Pediatric Dentistry, School of Dentistry &amp; DRI, Seoul National University, Seoul 03080, Korea"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1968","published-online":{"date-parts":[[2021,4,26]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"547","DOI":"10.1111\/j.1600-0714.1988.tb01332.x","article-title":"Amelogenesis imperfecta, dentinogenesis imperfecta and dentin dysplasia revisited: Problems in classification","volume":"17","author":"Witkop","year":"1988","journal-title":"J. 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