RESUMO
Mowat-Wilson syndrome is a mental retardation-multiple congenital anomaly syndrome characterized by a typical facies, developmental delay, epilepsy, and variable congenital malformations, including Hirschsprung disease, urogenital anomalies, congenital heart disease, and agenesis of the corpus callosum. This disorder is sporadic and is caused by heterozygous mutations or deletions of the ZFHX1B gene located in the 2q22 region. We report here the first Moroccan patient, born to consanguineous parents, with Mowat-Wilson syndrome, due to a de novo, unreported mutation of the ZFHX1B gene.
RESUMO
Development of yeast artificial chromosome [YAC] vectors, molecular cloning of large segments of chromosomal DNA, and their propagation in yeast cells has become feasible. Overlapping YAC provides a route to the development of physical maps of entire mammalian chromosomes. A rapid method was developed to isolate and sequence termini of YAC inserts quickly. The YAC clone is digested with a range of restriction enzymes, and ligated with a linker at its ends. The digested fragments were amplified using modified vector specific primers and a universal linker primer. PCR products were sequenced and the information used to drive new sets of primers for screening of YAC libraries to obtain overlapping clones and construct existing YAC contig