Gene discovered for heart and facial defects
This article was originally published in Clinica
Executive Summary
Researchers in the US and Japan have identified the gene they believe is responsible for the most common genetic cause of heart and facial birth defects. In Science (February 19), Dr Deepak Srivastava of the University of Texas Southwestern Medical Centre in Dallas describes a deletion of part of one gene on chromosome 22 that can cause a variety of anomalies. Children with chromosome 22 deletion syndrome can suffer heart defects, abnormal facial features, immune deficiencies, cleft palate and low blood calcium.