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New prospectives on treatment opportunities in RASopathies.
Gelb BD, Yohe ME, Wolf C, Andelfinger G. Gelb BD, et al. Am J Med Genet C Semin Med Genet. 2022 Dec;190(4):541-560. doi: 10.1002/ajmg.c.32024. Epub 2022 Dec 19. Am J Med Genet C Semin Med Genet. 2022. PMID: 36533679 Free PMC article. Review.
The prototypic RASopathy is Noonan syndrome, which has phenotypic overlap with related disorders such as cardiofaciocutaneous syndrome, Costello syndrome, Noonan syndrome with multiple lentigines, and others. In this state-of-the-art review, we summarize current kno …
The prototypic RASopathy is Noonan syndrome, which has phenotypic overlap with related disorders such as cardiofaciocutaneous synd …
Neurologic and neurodevelopmental complications in cardiofaciocutaneous syndrome are associated with genotype: A multinational cohort study.
Pierpont EI, Kenney-Jung DL, Shanley R, Zatkalik AL, Whitmarsh AE, Kroening SJ, Roberts AE, Zenker M. Pierpont EI, et al. Genet Med. 2022 Jul;24(7):1556-1566. doi: 10.1016/j.gim.2022.04.004. Epub 2022 May 7. Genet Med. 2022. PMID: 35524774 Free article.
METHODS: A multinational cohort of 138 individuals with CFC syndrome (BRAF = 90, MAP2K1 = 36, MAP2K2 = 10, KRAS = 2) was recruited. Neurologic presentation was captured via clinician review of medical records and caregiver-completed electronic surveys. ...
METHODS: A multinational cohort of 138 individuals with CFC syndrome (BRAF = 90, MAP2K1 = 36, MAP2K2 = 10, KRAS = 2) was recruited. N …
Prenatal and infantile diagnosis of craniosynostosis in individuals with RASopathies.
Serbinski CR, Vanderwal A, Chadwell SE, Sanchez AI, Hopkin RJ, Hufnagel RB, Weaver KN, Prada CE. Serbinski CR, et al. Am J Med Genet A. 2024 Feb;194(2):195-202. doi: 10.1002/ajmg.a.63397. Epub 2023 Sep 29. Am J Med Genet A. 2024. PMID: 37774117
Two were diagnosed with craniosynostosis prenatally, 1 was diagnosed as a neonate, and 2 had evidence of craniosynostosis noted as neonates without formal diagnosis until later. Two of these individuals have Noonan syndrome (PTPN11 and KRAS variants) and three individuals …
Two were diagnosed with craniosynostosis prenatally, 1 was diagnosed as a neonate, and 2 had evidence of craniosynostosis noted as ne …
Infantile epileptic spasms syndrome in children with cardiofaciocutanous syndrome: Clinical presentation and associations with genotype.
Kenney-Jung DL, Rogers DJ, Kroening SJ, Zatkalik AL, Whitmarsh AE, Roberts AE, Zenker M, Gambardella ML, Contaldo I, Leoni C, Onesimo R, Zampino G, Tartaglia M, Battaglia DI, Pierpont EI. Kenney-Jung DL, et al. Am J Med Genet C Semin Med Genet. 2022 Dec;190(4):501-509. doi: 10.1002/ajmg.c.32022. Epub 2022 Nov 29. Am J Med Genet C Semin Med Genet. 2022. PMID: 36448195 Free PMC article.
Gene variants that dysregulate signaling through the RAS-MAPK pathway cause cardiofaciocutaneous syndrome (CFCS), a rare multi-system disorder. Infantile epileptic spasms syndrome (IESS) and other forms of epilepsy are among the most serious complications. ...IESS p …
Gene variants that dysregulate signaling through the RAS-MAPK pathway cause cardiofaciocutaneous syndrome (CFCS), a rare multi …
Cardio-facio-cutaneous syndrome: does genotype predict phenotype?
Allanson JE, Annerén G, Aoki Y, Armour CM, Bondeson ML, Cave H, Gripp KW, Kerr B, Nystrom AM, Sol-Church K, Verloes A, Zenker M. Allanson JE, et al. Am J Med Genet C Semin Med Genet. 2011 May 15;157C(2):129-35. doi: 10.1002/ajmg.c.30295. Epub 2011 Apr 14. Am J Med Genet C Semin Med Genet. 2011. PMID: 21495173 Free PMC article.
BRAF mutations are documented in 140 individuals (approximately 75%), while 46 (approximately 25%) have a mutation in MEK 1 or MEK 2. The age range is 6 months to 32 years, the oldest individual being a female from the original report [Reynolds et al. (1986); Am J Med Gene …
BRAF mutations are documented in 140 individuals (approximately 75%), while 46 (approximately 25%) have a mutation in MEK 1 or MEK 2. …