| It has been demonstrated that Möbius syndrome has at least partly a genetic background. In two large Dutch MBS families two areas have been found in the genome where a defective gene, causing a mild form of Möbius syndrome, is located (chromosome 3q21-q22 and 10q21-q22). Also several isolated MBS patients with considerable chromosomal aberrations, like deletions and translocations, have been described, which indicates a genetic cause of the disease. With the development of new technologies based on DNA chips, the CHG microarray technique, it is now possible to search more rapidly and precisely for small chromosomal aberrations in isolated MBS patients. On the DNA chips genetic material of a healthy control person will be compared with that of an MBS patient. In 41 isolated MBS patients small deletions (missing building blocks) or duplications (of the genetic material) will be searched in the genome. Moreover, the gene responsible for the disease will be traced in newly identified areas, in order to gain a better insight into the genes and processes playing a role in the development of the brain stem/brain nerves and limbs. |
