{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,2,21]],"date-time":"2025-02-21T19:09:01Z","timestamp":1740164941968,"version":"3.37.3"},"reference-count":27,"publisher":"Korea Genome Organization","issue":"3","license":[{"start":{"date-parts":[[2022,9,30]],"date-time":"2022-09-30T00:00:00Z","timestamp":1664496000000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["genominfo.org"],"crossmark-restriction":true},"short-container-title":["Genomics Inform"],"published-print":{"date-parts":[[2022,9,30]]},"abstract":"<jats:p>We described a clinical, laboratory, and genetic presentation of a pathogenic variant of the CYP1B1 gene through a report of a case of primary congenital glaucoma and a trio analysis of this candidate variant in the family with the sanger sequencing method and eventually completed our study with the secondary\/incidental findings. This study reports a rare case of primary congenital glaucoma, an 8-year-old female child with a negative family history of glaucoma and uncontrolled intraocular pressure. This case\u2019s whole-exome sequencing data analysis presents a homozygous pathogenic single nucleotide variant in the CYP1B1 gene (NM 000104:exon3:c.G1103A:p.R368H). At the same time, this pathogenic variant was obtained as a heterozygous state in her unaffected father but not her mother. The diagnosis was made based on molecular findings of whole-exome sequencing data analysis. Therefore, the clinical reports and bioinformatics findings supported the relation between the candidate pathogenic variant and the disease. However, it should not be forgotten that primary congenital glaucoma is not peculiar to the CYP1B1 gene. Since the chance of developing autosomal recessive disorders with low allele frequency and unrelated parents is extraordinary in offspring. However, further data analysis of whole-exome sequencing and sanger sequencing method were applied to obtain the type of mutation and how it was carried to the offspring.<\/jats:p>","DOI":"10.5808\/gi.21044","type":"journal-article","created":{"date-parts":[[2022,9,30]],"date-time":"2022-09-30T07:06:41Z","timestamp":1664521601000},"page":"e28","update-policy":"https:\/\/doi.org\/10.5808\/crossmark_policy","source":"Crossref","is-referenced-by-count":2,"title":["Whole-exome sequencing analysis in a case of primary congenital glaucoma due to the partial uniparental isodisomy"],"prefix":"10.5808","volume":"20","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-9549-3260","authenticated-orcid":true,"given":"Parisima Ghaffarian","family":"Zavarzadeh","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Morteza","family":"Bonyadi","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-6750-0208","authenticated-orcid":true,"given":"Zahra","family":"Abedi","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"3815","reference":[{"key":"ref1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddx184"},{"key":"ref2","first-page":"75","volume-title":"Sex bias in primary congenital glaucoma patients with and without CYP1B1 mutations","author":"Suri","year":"2009"},{"key":"ref3","doi-asserted-by":"publisher","DOI":"10.1055\/s-0037-1602695"},{"key":"ref4","doi-asserted-by":"publisher","DOI":"10.1007\/s12687-011-0072-y"},{"key":"ref5","first-page":"1","volume-title":"Comparison of variant calls from whole genome and whole exome sequencing data using matched samples","author":"Bjorn","year":"2018"},{"key":"ref6","first-page":"208","volume-title":"Intraocular pressure measurements in cattle, sheep, and goats with 2 different types of tonometers","author":"Peche","year":"2018"},{"key":"ref7","first-page":"1","volume-title":"Methods for extracting genomic DNA from whole blood samples: current perspectives","author":"Chacon Cortes","year":"2014"},{"key":"ref8","doi-asserted-by":"publisher","DOI":"10.12688\/f1000research.15931.2"},{"key":"ref9","doi-asserted-by":"publisher","DOI":"10.1093\/bioinformatics\/btp352"},{"key":"ref10","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pone.0064343"},{"key":"ref11","doi-asserted-by":"publisher","DOI":"10.1093\/aje\/kwq234"},{"key":"ref12","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2017.01.004"},{"key":"ref13","doi-asserted-by":"publisher","DOI":"10.1093\/bioinformatics\/bty897"},{"key":"ref14","doi-asserted-by":"publisher","DOI":"10.1186\/1471-2164-14-s3-s6"},{"key":"ref15","doi-asserted-by":"publisher","DOI":"10.1093\/bioinformatics\/btv195"},{"key":"ref16","first-page":"1519","volume-title":"Assessment of predicted enzymatic activity of alpha-N-acetylglucosaminidase variants of unknown significance for CAGI 2016","author":"Clark","year":"2019"},{"key":"ref17","doi-asserted-by":"publisher","DOI":"10.1016\/j.ygeno.2016.01.005"},{"key":"ref18","doi-asserted-by":"publisher","DOI":"10.1038\/gim.2015.30"},{"key":"ref19","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.2009.01242.x"},{"key":"ref20","doi-asserted-by":"publisher","DOI":"10.1016\/s0168-9525(02)02708-7"},{"key":"ref21","doi-asserted-by":"publisher","DOI":"10.1038\/gim.2013.73"},{"key":"ref22","doi-asserted-by":"publisher","DOI":"10.1093\/nar\/gkt1113"},{"key":"ref23","doi-asserted-by":"publisher","DOI":"10.1016\/j.ejmg.2018.08.010"},{"volume-title":"","year":"2017","author":"Abu-Amero","key":"ref24"},{"key":"ref25","doi-asserted-by":"publisher","DOI":"10.4103\/2008-322x.156120"},{"key":"ref26","doi-asserted-by":"publisher","DOI":"10.1038\/s41431-019-0348-y"},{"key":"ref27","doi-asserted-by":"publisher","DOI":"10.7150\/jca.42669"}],"container-title":["Genomics &amp; 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