Rumiko Matsuoka

TL;DR: It is shown that isolated cardiac septal defects in a large pedigree were linked to chromosome 8p22-23 and implicate GATA4 as a genetic cause of human cardiac sePTal defects, perhaps through its interaction with TBX5.

TL;DR: The results suggest that the TBX1 mutation is responsible for five major phenotypes in del22q11.2 syndrome, and conclude thatTBX1 is a major genetic determinant of the del22Q11.

TL;DR: In this article, the authors identify five different mutations in RAF1 in ten individuals with Noonan syndrome; those with any of four mutations causing changes in the CR2 domain of RAF1 had hypertrophic cardiomyopathy (HCM), whereas affected individuals with mutations leading to changes in CR3 domain did not.

TL;DR: An integrated physical, genetic, and transcriptional map of the WMS and flanking regions is generated using multicolor metaphase and interphase fluorescence in situ hybridization of bacterial artificial chromosomes and P1 artificial chromosomes, BAC end sequencing, PCR gene marker and microsatellite, large-scale sequencing, cDNA library, and database analyses, which establish regions and consequent gene candidates for WMS features including mental retardation, hypersociability, and facial features.

TL;DR: Data suggest that UFD1L haploinsufficiency contributes to the congenital heart and craniofacial defects seen in 22q11 deletion.