biostudies-literatureUnknown16 Suppl 1Marshall CR<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 BMC genomicsS12https://www.ebi.ac.uk/biostudies/studies/S-EPMC4315153biostudies-literatureWhole-exome analysis of foetal autopsy tissue reveals a frameshift mutation in OBSL1, consistent with a diagnosis of 3-M Syndrome.PMC4315153Szego MPereira SLAbuzenadah AMAbu-Elmagd MFarrell SACushing DMarshall CRRay PNLau LScherer SWStockley TLCohn RDPaton TStavropoulos DJWintle RFfalseWhole-exome analysis of foetal autopsy tissue reveals a frameshift mutation in OBSL1, consistent with a diagnosis of 3-M Syndrome.<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 2015-01-01T00:00:00Z20152026-04-30T23:51:10.953Z2026-04-07T16:27:32.602ZS-EPMC43151532592353610.1186/1471-2164-16-S1-S12