Two independent de novo mutations as a cause for neurofibromatosis type 1 and Noonan syndrome in a single family

2012 ◽  
Vol 158A (9) ◽  
pp. 2290-2291 ◽  
Author(s):  
Eric Pasmant ◽  
Jeanne Amiel ◽  
Diana Rodriguez ◽  
Michel Vidaud ◽  
Dominique Vidaud ◽  
...  
Keyword(s):  
Neurofibromatosis Type 1 ◽  
Noonan Syndrome ◽  
De Novo ◽  
Neurofibromatosis Type ◽  
Single Family ◽  
De Novo Mutations

scholarly journals Establishing the diagnosis neurofibromatosis type 1: A rare case

2019 ◽  
Author(s):  
Dyatiara Devy ◽  
D. Damayanti
Keyword(s):  
Neurofibromatosis Type 1 ◽  
De Novo ◽  
Malignant Tumors ◽  
Neurofibromatosis Type ◽  
The Body ◽  
Multisystem Disorder ◽  
Wide Range ◽  
Multidisciplinary Clinic ◽  
History Of

Neurofibromatosis type 1 (NF1) or Von Recklinghausen's disease is a dominantly inherited genetic, multisystem disorder. Individuals with neurofibromatosis type 1 are prone to develop benign and malignant tumors of the CNS and peripheral nervous system, in addition to malignant diseases affecting other parts of the body. About 50% of individuals with neurofibromatosis type 1 have no family history of the disease and the disease is due to de novo (spontaneous) mutations. Early diagnosis is challenging because of its extremely variable characteristics. Some individuals may be mildly affected showing minimal signs, whereas others are severely afflicted. Individuals with NF-1 are best cared for within a multidisciplinary clinic, which has access to a wide range of subspecialists. The dermatologist has a role not only in the diagnosis of NF1 and differentiating it from other similar disorders, but also in the recognition of rare associated skin manifestations.

scholarly journals Single-sperm analysis for haplotype construction of de-novo paternal mutations: application to PGD for neurofibromatosis type 1

2006 ◽  
Vol 21 (8) ◽  
pp. 2047-2051 ◽  
Author(s):  
G. Altarescu ◽  
B. Brooks ◽  
Y. Kaplan ◽  
T. Eldar-Geva ◽  
E.J. Margalioth ◽  
...  
Keyword(s):  
Neurofibromatosis Type 1 ◽  
De Novo ◽  
Neurofibromatosis Type ◽  
Sperm Analysis

Three different pathological lesions in the NF1 gene originating de novo in a family with neurofibromatosis type 1

2003 ◽  
Vol 112 (1) ◽  
pp. 12-17 ◽  
Author(s):  
Meena Upadhyaya ◽  
Elisa Majounie ◽  
Peter Thompson ◽  
Song Han ◽  
Claudia Consoli ◽  
...  
Keyword(s):  
Neurofibromatosis Type 1 ◽  
De Novo ◽  
Neurofibromatosis Type ◽  
Pathological Lesions ◽  
Nf1 Gene

scholarly journals Neurofibromatosis type 1 with subarachnoid hemorrhage due to multiple and de novo aneurysms: a case report

2021 ◽  
Vol 15 (1) ◽  
Author(s):  
Tatsuya Uchida ◽  
Kenichi Amagasaki ◽  
Atsushi Hosono ◽  
Hiroshi Nakaguchi
Keyword(s):  
Computed Tomography ◽  
Subarachnoid Hemorrhage ◽  
Neurofibromatosis Type 1 ◽  
Intracranial Aneurysms ◽  
De Novo ◽  
Neurofibromatosis Type ◽  
Left Middle Cerebral Artery ◽  
Short Period ◽  
Left Middle

Abstract Background Neurofibromatosis type 1 causes various lesions in many organs including the skin, and the incidence of complications with intracranial aneurysms is 9–11%. Here we report a case of neurofibromatosis type 1 with subarachnoid hemorrhage due to multiple and de novo aneurysms. Case presentation The patient was a 49-year-old Japanese woman with a history of neurofibromatosis type 1. She was transported to our hospital owing to disturbance of consciousness and was diagnosed with subarachnoid hemorrhage by computed tomography. Computed tomography angiography revealed multiple, small intracranial aneurysms, and we suspected that one of them in the peripheral branch of the left middle cerebral artery was the source of hemorrhage based on the distribution of hematoma. The patient underwent emergency surgery. Because it was difficult to identify an aneurysm in the most peripheral part of the left middle cerebral artery in the initial surgery, only one aneurysm was clipped. Later, a peripheral aneurysm was clipped using the navigation system. Because both aneurysms were small intracranial aneurysms (< 2 mm), either of them could be the source of hemorrhage. The postoperative course was good, and the patient was discharged in healthy condition. Because brain magnetic resonance imaging performed in the previous year did not find aneurysms at the same site, she was diagnosed with rupture of a de novo aneurysm. Neurofibromatosis type 1 might have caused the rupture of multiple intracranial aneurysms in a short period in this patient. Conclusion Neurofibromatosis type 1 may be complicated by the formation of multiple intracranial aneurysms in a short period.

Novel recurrent nonsense mutation causing neurofibromatosis type 1 (NF1) in a family segregating both NF1 and Noonan syndrome

1998 ◽  
Vol 75 (3) ◽  
pp. 265-272 ◽  
Author(s):  
Michel Bahuau ◽  
Claude Houdayer ◽  
Brigitte Assouline ◽  
Claudine Blanchet-Bardon ◽  
Martine Le Merrer ◽  
...  
Keyword(s):  
Neurofibromatosis Type 1 ◽  
Noonan Syndrome ◽  
Nonsense Mutation ◽  
Neurofibromatosis Type
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