Both obesity and being underweight have been associated with increased mortality. Underweight, defined as a body mass index (BMI) ≤ 18.5 kg per m2 in adults and ≤ -2 standard deviations from the mean in children, is the main sign of a series of heterogeneous clinical conditions including failure to thrive, feeding and eating disorder and/or anorexia nervosa. In contrast to obesity, few genetic variants underlying these clinical conditions have been reported. We previously showed that hemizygosity of a ~600-kilobase (kb) region on the short arm of chromosome 16 causes a highly penetrant form of obesity that is often associated with hyperphagia and intellectual disabilities. Here we show that the corresponding reciprocal duplication is associated with being underweight.
Jacques S. Beckmann was appointed in October 2002 Professor of Human Genetics and Director of the Department of Medical Genetics at the Faculty of Biology and Medicine of the University of Lausanne (UNIL) as well as head of the Medical Genetics Service of the Centre Hospitalier Universitaire Vaudois (CHUV). Beckmann served on the editorial boards of a number of scientific journals and is or has been a board member of the ESHG, ENMC, Italian Telethon, and HGVS committees. His recent research interests also include genomic disorders, pharmacogenetics as well as the genetic basis of complex traits.
Moderation: Professor Dr. Uwe Völker