Nobuhiko Okamoto

TL;DR: Dysregulation of the RAS-RAF-ERK pathway is a common molecular basis for the three related disorders of Cardio-facio-cutaneous syndrome, which phenotypically overlaps with Noonan and Costello syndrome.

TL;DR: It is demonstrated that gain-of-function mutations in RIT1 cause Noonan syndrome and show a similar biological effect to mutations in other RASopathy-related genes.

TL;DR: Colobomata, hearing loss, laryngomalacia, and vestibulo-cochlear defect were prevalent and molecular testing for CHD7 enables an accurate diagnosis and provides health anticipatory guidance and genetic counseling to families with CHARGE syndrome.

TL;DR: High arched eyebrows, short fifth finger, and hypotonia in infancy were more frequent in the MLL2 mutation group than in the KDM6A mutation group, and short stature and postnatal growth retardation were observed in all individuals with KDM 6A mutations, but in only half of the group with M LL2 mutations.

TL;DR: A sequence‐based physical map was constructed and highly homologous sequences, i.e., possible low copy repeats (LCRs), in regions flanking proximal and distal breakpoints of the common deletion, suggests that LCRs may mediate the deletion.