- Germline mutation of CBL is associated with moyamoya disease in a child with juvenile myelomonocytic leukemia and Noonan syndrome-like disorder.
Germline mutation of CBL is associated with moyamoya disease in a child with juvenile myelomonocytic leukemia and Noonan syndrome-like disorder.
Pediatric blood & cancer (2014-10-07)
Nobuyuki Hyakuna, Hideki Muramatsu, Takeshi Higa, Yasutsugu Chinen, Xinan Wang, Seiji Kojima
PMID25283271
ABSTRACT
Germline mutations in CBL have been identified in patients with Noonan syndrome-like phenotypes, while juvenile myelomonocytic leukemia (JMML) harbors duplication of a germline CBL, resulting in acquired isodisomy. The association between moyamoya disease and Noonan syndrome carrying a PTPN11 mutation has recently been reported. We present a patient with JMML who developed moyamoya disease and neovascular glaucoma. Our patient exhibited a Noonan syndrome-like phenotype. Genetic analysis revealed acquired isodisomy and a germline heterozygous mutation in CBL. This is a rare case of CBL mutation associated with moyamoya disease. Prolonged RAS pathway signaling may cause disruption of cerebrovascular development.
MATERIALS
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Water, for embryo transfer, sterile-filtered, BioXtra, suitable for mouse embryo cell culture
Pure Water Density Standard, UKAS ISO/IEC17025 and ISO Guide 34 certified, density: 0.9982 g/mL at 20 °C, density: 0.9970 g/mL at 25 °C
Pure Water Density Standard, UKAS ISO/IEC17025 and ISO Guide 34 certified, density: 0.9982 g/mL at 20 °C, density: 0.9970 g/mL at 25 °C