Neurofibromatosis Type I as a Model of Autosomal Dominant Inheritance

2001 ◽  
Vol 18 (5) ◽  
pp. 445-447 ◽  
Author(s):  
Lucie Dupuis ◽  
Marjan M. Nezarati
Keyword(s):  
Autosomal Dominant ◽  
Neurofibromatosis Type ◽  
Autosomal Dominant Inheritance ◽  
Type I ◽  
Neurofibromatosis Type I ◽  
Dominant Inheritance

scholarly journals Sepsis from Neurofibromatosis

2006 ◽  
Vol 33 (3) ◽  
pp. 328-328
Author(s):  
Navdeep Tangri ◽  
Shireen Sirhan ◽  
Gordon Crelinsten
Keyword(s):  
Autosomal Dominant ◽  
Clinical Manifestations ◽  
Neurofibromatosis Type ◽  
Large Mass ◽  
Type I ◽  
Neurofibromatosis Type I ◽  
Autosomal Dominant Disorder ◽  
Chest Wound ◽  
History Of ◽  
The Right

Neurofibromatosis Type I or von Recklinghausen’s neurofibromatosis is an autosomal dominant disorder with a high index of spontaneous mutations and extremely varied and unpredictable clinical manifestations. We present a case of sepsis secondary to an infected hematoma, enclosed within a massive neurofibroma.A 42-year-old man presented to the emergency department with a one week history of fever and chills. He reported an increase in pain and size of a growth near his chest. The patient was noted to be febrile on arrival. On physical examination, a very large neurofibroma was seen extending from the right upper chest. Wound and blood cultures were obtained. Computed Tomography (CT) of the thorax revealed a hematoma contained within the large mass.

scholarly journals Posterolateral approach in a neurofibromatosis type-I patient with severe dystrophic thoracic kyphoscoliosis: A case report, cadaver study, and literature review

2015 ◽  
Vol 6 (01) ◽  
pp. 084-086
Author(s):  
Sven Bamps ◽  
Frank Van Calenbergh ◽  
Johan Van Loon ◽  
Raf Van Paesschen ◽  
Paul Vanderschot
Keyword(s):  
Autosomal Dominant ◽  
Neurofibromatosis Type ◽  
Cadaver Study ◽  
Posterolateral Approach ◽  
Type I ◽  
Neurofibromatosis Type I ◽  
Thoracic Spinal Cord ◽  
Thoracic Spinal ◽  
Vertebral Bodies ◽  
Acquired Abnormalities

ABSTRACTNeurofibromatosis type-I (NF-I) is an autosomal-dominant hereditary disorder, in which spinal skeletal deformities are one of the manifestations and manifest as acquired abnormalities and present as short, sharp, and angular (usually thoracic) curves. The scoliosis can be severe requiring surgical intervention. The surgical procedure can be difficult because of scalloping of the vertebral bodies and dural ectasia. We state that in selected cases of severe thoracic dystrophic kyphoscoliosis in NF-I, the posterolateral approach is the only possible method to visualize the anterior thoracic spinal cord, perform anterior decompression, and to stabilize the thoracic deformity, because of the anterior dural ectasias and the kyphosis limiting an anterior procedure.

Can 18FDG-PET detect malignant transformation of neurofibromas in patients with neurofibromatosis type I?

2006 ◽  
Vol 37 (06) ◽  
Author(s):  
J Neinert ◽  
E Fastnacht ◽  
R Larisch ◽  
E Legius ◽  
R Engelskirchen ◽  
...  
Keyword(s):  
Malignant Transformation ◽  
Neurofibromatosis Type ◽  
Type I ◽  
Neurofibromatosis Type I ◽  
18Fdg Pet

scholarly journals Effective variant filtering and expected candidate variant yield in studies of rare human disease

2021 ◽  
Vol 6 (1) ◽  
Author(s):  
Brent S. Pedersen ◽  
Joe M. Brown ◽  
Harriet Dashnow ◽  
Amelia D. Wallace ◽  
Matt Velinder ◽  
...  
Keyword(s):  
Whole Genome Sequencing ◽  
Rare Disease ◽  
Genome Sequencing ◽  
Autosomal Dominant ◽  
De Novo ◽  
Autosomal Dominant Inheritance ◽  
Compound Heterozygous ◽  
Whole Genome ◽  
Dominant Inheritance ◽  
Family Based

AbstractIn studies of families with rare disease, it is common to screen for de novo mutations, as well as recessive or dominant variants that explain the phenotype. However, the filtering strategies and software used to prioritize high-confidence variants vary from study to study. In an effort to establish recommendations for rare disease research, we explore effective guidelines for variant (SNP and INDEL) filtering and report the expected number of candidates for de novo dominant, recessive, and autosomal dominant modes of inheritance. We derived these guidelines using two large family-based cohorts that underwent whole-genome sequencing, as well as two family cohorts with whole-exome sequencing. The filters are applied to common attributes, including genotype-quality, sequencing depth, allele balance, and population allele frequency. The resulting guidelines yield ~10 candidate SNP and INDEL variants per exome, and 18 per genome for recessive and de novo dominant modes of inheritance, with substantially more candidates for autosomal dominant inheritance. For family-based, whole-genome sequencing studies, this number includes an average of three de novo, ten compound heterozygous, one autosomal recessive, four X-linked variants, and roughly 100 candidate variants following autosomal dominant inheritance. The slivar software we developed to establish and rapidly apply these filters to VCF files is available at https://github.com/brentp/slivar under an MIT license, and includes documentation and recommendations for best practices for rare disease analysis.

Genomic features of lung cancer patients harboring germline mutations associated with hereditary cancer syndromes.

2021 ◽  
Vol 39 (15_suppl) ◽  
pp. e20511-e20511
Author(s):  
Jian Sun ◽  
Weiran Wang ◽  
Danhua Wang ◽  
Hongling Yuan ◽  
Tonghui Ma
Keyword(s):  
Lung Cancer ◽  
Cancer Patients ◽  
Autosomal Recessive ◽  
Autosomal Dominant ◽  
Autosomal Recessive Inheritance ◽  
Germline Mutations ◽  
Autosomal Dominant Inheritance ◽  
Recessive Inheritance ◽  
Dominant Inheritance ◽  
Lung Cancer Patients

e20511 Background: Smoking and air pollution are the major causes of lung cancer; however, numerous studies have demonstrated that genetic factors also contribute to the development of lung cancer. Here, we reported an analysis of genomic features in 65 lung cancer patients with autosomal-dominant or autosomal-recessive inheritance of germline mutations. Methods: We retrospectively reviewed next-generation sequencing data of 26,904 lung cancer patients in a Chinese cohort. The germline mutation patterns, as well as the co-occurrence with somatic driver mutations were analyzed. Results: A total of 65 (0.24%) patients with heterozygous germline mutations associated with hereditary cancer syndromes were detected, including 27 (0.10%) patients with autosomal-dominant inheritance (BRCA1, BRCA2, RET and TP53) and 38 (0.14%) patients with autosomal-recessive inheritance (ATM, BLM, FANCA, FANCG, MUTYH, NBN, RECQL4 and WRN). Comparing to patients with autosomal-dominant inheritance (Age 56±17.8), patients with autosomal-recessive inheritance (Age 65±11.7, P = 0.009) were older, and there is no gender difference. Additionally, 66.7% (18/27) of patients with autosomal-dominant inheritance were identified co-mutated actionable variations, such as 12 patients harboring mutations in exon 18–21 of EGFR, 2 patients harboring ERBB2 exon 20 insertions, 3 patients harboring mutations in exon 2 of KRAS and 1 patient harboring EML4-ALK fusion. The coexistence of germline autosomal-dominant mutations and somatic driver mutations indicated that germline mutations have weak impact on lung cancer. Simultaneously, 52.6% (20/38) of patients with autosomal-recessive inheritance were identified co-mutated actionable variations, such as 15 EGFR+ patients, 2 ERBB2+ patients and 3 KRAS+ patients. And there was no significant difference in population frequency of co-mutated actionable variations between the two groups. Conclusions: In summary, studies on germline mutations of lung cancer patients may help to elucidate the etiology and mechanism of lung cancer, and may help for early detection and diagnosis, targeted therapy and improved prevention strategies.

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