{"database":"biostudies-literature","file_versions":[],"scores":null,"additional":{"submitter":["Jiang Y"],"funding":["National Natural Science Foundation of China"],"pagination":["769636"],"full_dataset_link":["https://www.ebi.ac.uk/biostudies/studies/S-EPMC8672680"],"repository":["biostudies-literature"],"omics_type":["Unknown"],"volume":["9"],"pubmed_abstract":["<i>BMP4</i> variants have been reported to be associated with syndromic microphthalmia (MCOPS6, OMIM 607932). This study aims to describe <i>BMP4</i> truncation mutations contributing to a novel phenotype in eight patients from four Chinese families. In this study, <i>BMP4</i> variants were collected from a large dataset from in-house exome sequencing. Candidate variants were filtered by multiple <i>in silico</i> tools as well as comparison with data from multiple databases. Potential pathogenic variants were further confirmed by Sanger sequencing and cosegregation analysis. Four novel truncation variants in <i>BMP4</i> were detected in four out of 7,314 unrelated probands with different eye conditions. These four mutations in the four families solely cosegregated in all eight patients wit"],"journal":["Frontiers in cell and developmental biology"],"pubmed_title":["Novel <i>BMP4</i> Truncations Resulted in Opposite Ocular Anomalies: Pathologic Myopia Rather Than Microphthalmia."],"pmcid":["PMC8672680"],"funding_grant_id":["81770965"],"pubmed_authors":["Jiang Y","Li X","Zhou L","Wang P","Li S","Xiao X","Jia X","Ouyang J","Sun W","Wang Y","Zhang Q"],"additional_accession":[]},"is_claimable":false,"name":"Novel <i>BMP4</i> Truncations Resulted in Opposite Ocular Anomalies: Pathologic Myopia Rather Than Microphthalmia.","description":"<i>BMP4</i> variants have been reported to be associated with syndromic microphthalmia (MCOPS6, OMIM 607932). This study aims to describe <i>BMP4</i> truncation mutations contributing to a novel phenotype in eight patients from four Chinese families. In this study, <i>BMP4</i> variants were collected from a large dataset from in-house exome sequencing. Candidate variants were filtered by multiple <i>in silico</i> tools as well as comparison with data from multiple databases. Potential pathogenic variants were further confirmed by Sanger sequencing and cosegregation analysis. Four novel truncation variants in <i>BMP4</i> were detected in four out of 7,314 unrelated probands with different eye conditions. These four mutations in the four families solely cosegregated in all eight patients wit","dates":{"release":"2021-01-01T00:00:00Z","publication":"2021","modification":"2026-05-07T20:16:47.749Z","creation":"2022-02-11T15:02:41.552Z"},"accession":"S-EPMC8672680","cross_references":{"pubmed":["34926457"],"doi":["10.3389/fcell.2021.769636"]}}