PBX1 Gene Disorder in the United Kingdom: Case Report and Review of Available Literature

It has been well-established that as science advances, genetic and inherited conditions that could not have been detected centuries ago will become detectable, and affected individuals will have at least a diagnosis in hopeless situations. Such was very apparent in this case. For decades, the three main chromosomal trisomies, Turner’s syndrome, Fragile X syndrome, and Triple-X syndrome, have been dominant in the medical literature, in relation to prenatal diagnosis. However, with recent advances in prenatal diagnosis, the scientific community is now able to detect and analyze new rare conditions that could not have been detected 50 or more years ago. Rare diseases are often known to be life-threatening and chronic, and on average, it takes four years or more to receive an accurate diagnosis of a rare disease. Most rare diseases currently have no effective treatment. Autosomal dominant (de novo) mutations in the PBX1 gene, which are rare, are known to cause congenital abnormalities of the kidney and urinary tract (CAKUT), with or without extra‐renal abnormalities. We present a rare case of PBX1 disorder, in which an extensive literature search with the search term “PBX1-related disorders in the UK” did not reveal significant local or national publications.