Publications by authors named "Mie Iwakoshi"
Article Synopsis
- Mowat-Wilson syndrome (MWS) is a genetic disorder linked to intellectual disabilities, distinct facial features, and various organ anomalies, primarily caused by mutations in the ZEB2 gene.
- A study identified 13 nonsense and 27 frameshift mutations in 40 new MWS patients in Japan, noting similarities with previously reported cases but differences in the frequency of certain symptoms like microcephaly and Hirschsprung disease.
- The research highlighted that mutations affecting ZEB2 stability, particularly a specific frameshift mutation, lead to low levels of the associated protein, which contributes to the development of MWS.
Array using 2,173 BAC clones covering the whole human genome has been constructed. All clones spotted were confirmed to show a unique signal at the predicted chromosomal location by FISH analysis in our laboratory. A total of 30 individuals with idiopathic mental retardation (MR) were analyzed by comparative genomic hybridization using this array.
View Article and Find Full Text PDFPatients with 9q34.3 terminal deletion usually show a clinically recognizable phenotype characterized by specific facial features (microcephaly, flat face, arched eyebrows, hypertelorism, short nose, anteverted nostrils, carp mouth and protruding tongue) in combination with severe mental retardation, hypotonia, and other anomalies. We analyzed six unrelated patients with a various 9q34.
View Article and Find Full Text PDFWe described three unrelated children with cryptic 9q34.3 rearrangements and similar clinical manifestations: two with 9q34.3 terminal deletions and the other with an unbalanced translocation involving 9q34.
View Article and Find Full Text PDF