Kazuo Momma

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: The conotruncal anomaly face syndrome was described in a Japanese publication in 1976 and comprises dysmorphic facial appearance and outflow tract defects of the heart and showed similarities to Shprintzen syndrome and DiGeorge syndrome.

TL;DR: Conotruncal anomaly associated with aortic arch and ductus arteriosus anomalies should increase the suspicion of 22q11.2 deletion in patients with TF with absent pulmonary valve and major aortopulmonary collateral arteries.

TL;DR: The results from both the Xenopus oocyte and HEK293 cell expression systems and green fluorescent protein tagging and Western blot analyses support the conclusion that the G601S mutant is a hypomorphic mutation, resulting in a reduced current amplitude, which represents a novel mechanism underlying LQT2.