For decades, the genetic cause of a rare and fatal X chromosome–linked syndrome characterized by talipes equinovarus, atrial septal defect, Robin sequence, and persistent left superior vena cava (TARP) eluded clinicians and scientists. But a new gene-finding strategy enabled scientists from the National Human Genome Research Institute (NHGRI) to discover the gene for TARP and to offer carrier testing to affected families (Johnston JJ et al. Am J Hum Genet. 2010;86:743-748).
Kuehn BM. Strategy Reveals Rare Disease Genes. JAMA. 2010;303(24):2463. doi:10.1001/jama.2010.833