{"database":"biostudies-literature","file_versions":[],"scores":null,"additional":{"omics_type":["Unknown"],"volume":["16 Suppl 1"],"submitter":["Marshall CR"],"pubmed_abstract":["<h4>Background</h4>We report a consanguineous couple that has experienced three consecutive pregnancy losses following the foetal ultrasound finding of short limbs. Post-termination examination revealed no skeletal dysplasia, but some subtle proximal limb shortening in two foetuses, and a spectrum of mildly dysmorphic features. Karyotype was normal in all three foetuses (46, XX) and comparative genomic hybridization microarray analysis detected no pathogenic copy number variants.<h4>Results</h4>Whole-exome sequencing and genome-wide homozygosity mapping revealed a previously reported frameshift mutation in the OBSL1 gene (c.1273insA p.T425nfsX40), consistent with a diagnosis of 3-M Syndrome 2 (OMIM #612921), which had not been anticipated from the clinical findings.<h4>Conclusions</h4>Our "],"journal":["BMC genomics"],"pagination":["S12"],"full_dataset_link":["https://www.ebi.ac.uk/biostudies/studies/S-EPMC4315153"],"repository":["biostudies-literature"],"pubmed_title":["Whole-exome analysis of foetal autopsy tissue reveals a frameshift mutation in OBSL1, consistent with a diagnosis of 3-M Syndrome."],"pmcid":["PMC4315153"],"pubmed_authors":["Szego M","Pereira SL","Abuzenadah AM","Abu-Elmagd M","Farrell SA","Cushing D","Marshall CR","Ray PN","Lau L","Scherer SW","Stockley TL","Cohn RD","Paton T","Stavropoulos DJ","Wintle RF"],"additional_accession":[]},"is_claimable":false,"name":"Whole-exome analysis of foetal autopsy tissue reveals a frameshift mutation in OBSL1, consistent with a diagnosis of 3-M Syndrome.","description":"<h4>Background</h4>We report a consanguineous couple that has experienced three consecutive pregnancy losses following the foetal ultrasound finding of short limbs. Post-termination examination revealed no skeletal dysplasia, but some subtle proximal limb shortening in two foetuses, and a spectrum of mildly dysmorphic features. Karyotype was normal in all three foetuses (46, XX) and comparative genomic hybridization microarray analysis detected no pathogenic copy number variants.<h4>Results</h4>Whole-exome sequencing and genome-wide homozygosity mapping revealed a previously reported frameshift mutation in the OBSL1 gene (c.1273insA p.T425nfsX40), consistent with a diagnosis of 3-M Syndrome 2 (OMIM #612921), which had not been anticipated from the clinical findings.<h4>Conclusions</h4>Our ","dates":{"release":"2015-01-01T00:00:00Z","publication":"2015","modification":"2026-04-30T23:51:10.953Z","creation":"2026-04-07T16:27:32.602Z"},"accession":"S-EPMC4315153","cross_references":{"pubmed":["25923536"],"doi":["10.1186/1471-2164-16-S1-S12"]}}