Our group is studying the functional characterization of proteins involved in monogenic disorders. Unravelling the physiological function of these proteins and effects caused by their loss or gain of function is indispensable in the elucidation of developmental syndromes in which they are involved.

Opitz BBB/G syndrome, at the focus of our current efforts, is a malformation syndrome of the ventral midline, characterized by a variety of symptoms such as hypertelorism, cleft lip and palate, dysphagia, congenital heart defects, hypospadias and imperforate anus and hymen. One of the most penetrant symptoms observed in a majority of the patients is mental retardation The syndrome is heterogeneous with an X- linked and an autosomal dominant form inherited via chromosome 22.

In addition, we are also interested in other midline malformation defects related to Opitz BBB/G syndrome. In particular, FG syndrome, DiGeorge syndrome and isolated hypertelorism and corpus callosum agenesis are of interest.

Finally, the groups als serves as the protein-function unit of the department assisting other groups in the design of suitable biochemical and cellbiological approaches.