Fetal hydrops caused by a novel pathogenic MECOM variant |
| |
Authors: | Elizabeth Wall Joan Forsyth Esther Kinning Tamás Marton |
| |
Institution: | 1. Department of Clinical Genetics, Birmingham Women's and Children's NHS Foundation Trust, Birmingham, UK;2. West Midlands Regional Genetics Laboratory, Birmingham Women's and Children's NHS Foundation Trust, Birmingham, UK;3. Histopathology Department, Birmingham Women's and Children's NHS Foundation Trust, Birmingham, UK |
| |
Abstract: | We report a fetus with hydrops, congenital heart disease and bilateral radioulnar synostosis caused by a novel pathogenic MECOM variant. The female fetus was referred for post-mortem examination after fetal hydrops and intrauterine death was diagnosed at 20 weeks gestation. Post-mortem examination confirmed fetal hydrops, pallor, truncus arteriosus and bilateral radioulnar synostosis. Trio whole genome sequencing analysis detected a novel de novo heterozygous pathogenic loss-of-function variant in MECOM (NM_004991), associated with a diagnosis of Radioulnar Synostosis with Amegakaryocytic Thrombocytopenia 2 (RUSAT-2). RUSAT-2 is a variable condition associated postnatally with bone marrow failure, radioulnar synostosis and congenital anomalies. RUSAT-2 is not currently associated with a prenatal phenotype or fetal demise, and was not present on diagnostic NHS prenatal gene panels at time of diagnosis. This case highlights the diagnostic value of detailed phenotyping with post-mortem examination, and of using a broad sequencing approach. |
| |
Keywords: | |
|
|