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In our study, novel compound heterozygous mutations in the <jats:italic>LTBP2<\/jats:italic> gene associated with MSP were reported, which was different from previous reported homozygous mutations.<\/jats:p>\n              <\/jats:sec><jats:sec>\n                <jats:title>Case presentation<\/jats:title>\n                <jats:p>The proband was an 18\u2010year\u2010old male in Western China with bilateral MSP, accompanied by ectopia lentis, secondary glaucoma and blindness in both eyes. In our hospital, he received\u00a0bilateral lens resection and trabeculectomy combined with peripheral iridotomy. Using next-generation sequencing (NGS)-based gene panel tests, we identified pathogenic mutations in the peripheral blood DNA sample from the proband: c.3614_3618dupCTGGC (exon24, NM_000428) and c.2819G\u2009&gt;\u2009A (exon18, NM_000428). The presence of the novel compound heterozygous mutations in the <jats:italic>LTBP2<\/jats:italic>\u2002gene was linked with the development of MSP. Sanger sequencing confirmed the existence of one of the two variants in each parent respectively.<\/jats:p>\n              <\/jats:sec><jats:sec>\n                <jats:title>Conclusion<\/jats:title>\n                <jats:p>Our results demonstrated a rare case of MSP phenotype associated with novel compound heterozygous mutations in the <jats:italic>LTBP2<\/jats:italic>\u2002gene using NGS technology.<\/jats:p>\n              <\/jats:sec>","DOI":"10.1186\/s12920-021-01080-0","type":"journal-article","created":{"date-parts":[[2021,9,17]],"date-time":"2021-09-17T13:04:08Z","timestamp":1631883848000},"update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":2,"title":["Compound heterozygous mutations in the LTBP2 gene associated with microspherophakia in a Chinese patient: a case report and literature review"],"prefix":"10.1186","volume":"14","author":[{"given":"Manhua","family":"Xu","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Kaiming","family":"Li","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-0103-3678","authenticated-orcid":false,"given":"Weimin","family":"He","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"297","published-online":{"date-parts":[[2021,9,17]]},"reference":[{"issue":"5","key":"1080_CR1","doi-asserted-by":"publisher","first-page":"314","DOI":"10.1136\/bjo.43.5.314","volume":"43","author":"MS Nirankari","year":"1959","unstructured":"Nirankari MS, Maudgal MC. 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All the participants signed informed consent documents before enrollment. This study was conducted according to the Declaration of Helsinki.","order":2,"name":"Ethics","group":{"name":"EthicsHeading","label":"Ethics approval and consent to participate"}},{"value":"Written informed consent was obtained from all participants for publication of this case report and accompanying images.","order":3,"name":"Ethics","group":{"name":"EthicsHeading","label":"Consent for publication"}},{"value":"The authors declare that they have no competing interests.","order":4,"name":"Ethics","group":{"name":"EthicsHeading","label":"Competing interests"}}],"article-number":"227"}}