Whole exome sequencing in short stature: Finding needles in the haystack

摘要

We all see patients like this: the child is very short and has a few dysmorphic features, but these are insufficient to suggest any particular diagnosis. We do a standard evaluation including thyroid function testing, screening tests for growth hormone deficiency, etc. A geneticist evaluates the child and orders a SNP microarray and sequencing of a couple of candidate genes. All tests are negative and we are left without a diagnosis. We then 'follow' the patient, perhaps treating with growth hormone or not. Not a particularly satisfying experience.