{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,7,30]],"date-time":"2025-07-30T10:37:35Z","timestamp":1753871855309,"version":"3.41.2"},"reference-count":49,"publisher":"Portland Press Ltd.","issue":"5","license":[{"start":{"date-parts":[[2020,5,4]],"date-time":"2020-05-04T00:00:00Z","timestamp":1588550400000},"content-version":"vor","delay-in-days":3,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["portlandpress.com"],"crossmark-restriction":true},"short-container-title":[],"published-print":{"date-parts":[[2020,5,29]]},"abstract":"<jats:title>Abstract<\/jats:title>\n               <jats:p>Choroideremia is a complex form of blindness-causing retinal degeneration. The aim of the present study was to investigate the pathogenic variant and molecular etiology associated with choroideremia in a Chinese family. All available family members underwent detailed ophthalmological examinations. Whole exome sequencing, bioinformatics analysis, Sanger sequencing, and co-segregation analysis of family members were used to validate sequencing data and confirm the presence of the disease-causing gene variant. The proband was diagnosed with choroideremia on the basis of clinical manifestations. Whole exome sequencing showed that the proband had a hemizygous variant in the CHM gene, c.22delG p. (Glu8Serfs*4), which was confirmed by Sanger sequencing and found to co-segregate with choroideremia. The variant was classified as likely pathogenic and has not previously been described. These results expand the spectrum of variants in the CHM gene, thus potentially enriching the understanding of the molecular basis of choroideremia. Moreover, they may provide insight for future choroideremia diagnosis and gene therapy.<\/jats:p>","DOI":"10.1042\/bsr20200067","type":"journal-article","created":{"date-parts":[[2020,5,4]],"date-time":"2020-05-04T11:35:29Z","timestamp":1588592129000},"update-policy":"https:\/\/doi.org\/10.1042\/crossmark_policy","source":"Crossref","is-referenced-by-count":2,"title":["Whole exome sequencing of a family revealed a novel variant in the <i>CHM<\/i> gene, c.22delG p.(Glu8Serfs*4), which co-segregated with choroideremia"],"prefix":"10.1042","volume":"40","author":[{"given":"Handong","family":"Dan","sequence":"first","affiliation":[{"name":"Eye Center, Renmin Hospital of Wuhan University, Wuhan 430060, Hubei, China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Tuo","family":"Li","sequence":"additional","affiliation":[{"name":"Department of Ophthalmology, The Central Hospital of Enshi Tujia and Miao Autonomous Prefecture, Enshi Clinical College of Wuhan University, Enshi 445000, Hubei, China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Xinlan","family":"Lei","sequence":"additional","affiliation":[{"name":"Eye Center, Renmin Hospital of Wuhan University, Wuhan 430060, Hubei, China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Xin","family":"Huang","sequence":"additional","affiliation":[{"name":"Eye Center, Renmin Hospital of Wuhan University, Wuhan 430060, Hubei, China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yiqiao","family":"Xing","sequence":"additional","affiliation":[{"name":"Eye Center, Renmin Hospital of Wuhan University, Wuhan 430060, Hubei, China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-4201-3948","authenticated-orcid":false,"given":"Yin","family":"Shen","sequence":"additional","affiliation":[{"name":"Eye Center, Renmin Hospital of Wuhan University, Wuhan 430060, Hubei, China"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"288","published-online":{"date-parts":[[2020,5,12]]},"reference":[{"key":"2021111620105223400_B1","doi-asserted-by":"publisher","first-page":"787","DOI":"10.1517\/21678707.2015.1046434","article-title":"Pathogenic mechanisms and the prospect of gene therapy for choroideremia","volume":"3","author":"Dimopoulos","year":"2015","journal-title":"Exp. 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