Intracranial vascular pathology in two further patients with Floating-Harbor syndrome: Proposals for cerebrovascular disease risk management

European Journal of Medical Genetics - Tập 63 - Trang 103785 - 2020
Lara Menzies1, Felice D'Arco1, Vijeya Ganesan2, Jane A. Hurst
1Great Ormond Street Hospital, London, UK
2UCL Great Ormond Street Institute of Child Health, London, UK

Tài liệu tham khảo

Aravind, 1998, AT-hook motifs identified in a wide variety of DNA-binding proteins, Nucleic Acids Res., 26, 4413, 10.1093/nar/26.19.4413 Bober, 2010, Majewski osteodysplastic primordial dwarfism type II (MOPD II): expanding the vascular phenotype, Am. J. Med. Genet., 152A, 960, 10.1002/ajmg.a.33252 Brinjikji, 2016, Risk factors for growth of intracranial aneurysms: a systematic review and meta-analysis, AJNR Am J Neuroradiol, 37, 615, 10.3174/ajnr.A4575 Clapier, 2009, The biology of chromatin remodeling complexes, Annu. Rev. Biochem., 78, 273, 10.1146/annurev.biochem.77.062706.153223 Coughlin, 2017, Treatment of moyamoya disease and unruptured intracranial aneurysm in floating-harbor syndrome, World Neurosurg, 104, 1049 e1, 10.1016/j.wneu.2017.05.083 Eissenberg, 2005, Human SRCAP and Drosophila melanogaster DOM are homologs that function in the notch signaling pathway, Mol. Cell. Biol., 25, 6559, 10.1128/MCB.25.15.6559-6569.2005 Fischer, 2013, Cervical artery dissection in a young patient with Rubinstein-Taybi syndrome, Clin. Neuroradiol., 23, 41, 10.1007/s00062-011-0100-7 Hood, 2012, Mutations in SRCAP, encoding SNF2-related CREBBP activator protein, cause Floating-Harbor syndrome, Am. J. Hum. Genet., 90, 308, 10.1016/j.ajhg.2011.12.001 Inagawa, 1990, Autopsy study of unruptured incidental intracranial aneurysms, Surg. Neurol., 34, 361, 10.1016/0090-3019(90)90237-J Johnston, 1999, Identification of a novel SNF2/SWI2 protein family member, SRCAP, which interacts with CREB-binding protein, J. Biol. Chem., 274, 16370, 10.1074/jbc.274.23.16370 Komotar, 2008, Guidelines for the surgical treatment of unruptured intracranial aneurysms: the first annual J. Lawrence pool memorial research symposium--controversies in the management of cerebral aneurysms, Neurosurgery, 62, 183, 10.1227/01.NEU.0000311076.64109.2E Messina, 2016, When chromatin organisation floats astray: the Srcap gene and Floating-Harbor syndrome, J. Med. Genet., 53, 793, 10.1136/jmedgenet-2016-103842 Monroy, 2003, SNF2-related CBP activator protein (SRCAP) functions as a coactivator of steroid receptor-mediated transcription through synergistic interactions with CARM-1 and GRIP-1, Mol. Endocrinol., 17, 2519, 10.1210/me.2003-0208 Munot, 2011, Paediatric stroke: genetic insights into disease mechanisms and treatment targets, Lancet Neurol., 10, 264, 10.1016/S1474-4422(10)70327-6 Nikkel, 2013, The phenotype of Floating-Harbor syndrome: clinical characterization of 52 individuals with mutations in exon 34 of SRCAP, Orphanet J. Rare Dis., 8, 63, 10.1186/1750-1172-8-63 Oshino, 2013, Prevalence of cerebral aneurysm in patients with acromegaly, Pituitary, 16, 195, 10.1007/s11102-012-0404-x Paluzzi, 2008, Ruptured cerebral aneurysm in a patient with Floating-Harbor syndrome, Clin. Dysmorphol., 17, 283, 10.1097/MCD.0b013e328306a38d Patton, 1991, Floating-Harbor syndrome, J. Med. Genet., 28, 201, 10.1136/jmg.28.3.201 Perry, 2013, Screening for cerebrovascular disease in microcephalic osteodysplastic primordial dwarfism type II (MOPD II): an evidence-based proposal, Pediatr. Neurol., 48, 294, 10.1016/j.pediatrneurol.2012.12.010 Raps, 1993, The clinical spectrum of unruptured intracranial aneurysms, Arch. Neurol., 50, 265, 10.1001/archneur.1993.00540030031010 Reschen, 2012, Floating-Harbor syndrome and polycystic kidneys associated with SRCAP mutation, Am. J. Med. Genet., 158A, 3196, 10.1002/ajmg.a.35635 Tumialan, 2006, Alagille syndrome and aneurysmal subarachnoid hemorrhage. Case report and review of the literature, Pediatr. Neurosurg., 42, 57, 10.1159/000089512 White, 2010, The phenotype of Floating-Harbor syndrome in 10 patients, Am. J. Med. Genet., 152A, 821, 10.1002/ajmg.a.33294 Wiebers, 2003, Unruptured intracranial aneurysms: natural history, clinical outcome, and risks of surgical and endovascular treatment, Lancet, 362, 103, 10.1016/S0140-6736(03)13860-3 Wilson, 2016, Pathophysiology of aortic aneurysm: insights from human genetics and mouse models, Pharmacogenomics, 17, 2071, 10.2217/pgs-2016-0127