Mutational spectrum of <i>NF1</i> gene in 24 unrelated Egyptian families with neurofibromatosis type 1

Abdel-Aziz, Nahla N.; El‐Kamah, Ghada; Khairat, Rabab; Mohamed, Hanan R. H.; Gad, Yehia Z.; El-Ghor, Akmal M; Amr, Khalda

doi:10.1002/mgg3.1631

Cited by 9 publications

(13 citation statements)

References 69 publications

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“…In these patients, the clinic was mild, and skin findings (CALs, freckling, and neurofibromas), Lisch nodules were prominent. Also, a milder form of the disease, characterized by the presence of only CALs and freckles, with changes in the amino acid found in p.Arg1809, has been reported in the literature (13). CAL is the most common feature in NF1.…”

Section: Discussionmentioning

confidence: 91%

“…Nevertheless, 38.4 % (n:15) of the variations were familial, while 43.5% (n:17) were de novo variations. (2,12,13). Worldwide, DNA mutations in NF1 are responsible for 88-97% of clinically diagnosed NF1 cases.…”

Section: Resultsmentioning

confidence: 99%

“…The genotype-phenotype correlations can not be established in most cases (11,13,14,17). The gene has the highest mutation rate with 1/10,000 alleles per generation.…”

Section: Discussionmentioning

confidence: 99%

“…The gene has the highest mutation rate with 1/10,000 alleles per generation. About 50% of patients have de novo mutations, and most are novel (2,13,18). In the current study, 53.12% (n:17) of variations were de novo.…”

Section: Discussionmentioning

confidence: 99%

“…Therefore it is important to conduct research with methods other than NGS, including multiplex ligation probe amplification (MLPA) in the patients, and keep mosaicism in mind. In addition, cDNA sequencing is recommended instead of DNA sequencing for NF1 sequence analysis (13).…”

Section: Discussionmentioning

confidence: 99%

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Detection of Novel NF1 Variants with Next Generation-based DNA Sequencing Technology, and Genotype-Phenotype Characteristics of Neurofibromatosis

Kiraz¹

2022

Erciyes Med J

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Objective: Neurofibromatosis type 1 (NF1, #162200) is a common neurological disorder with de novo or inherited germline mutations of the Neurofibromin (NF1, *613113). This study aims to increase the limited knowledge of NF1 in a small population-based dataset. Subjects and Methods:The study enrolled patients with clinically suspected NF1 referred to the Kayseri Education and Research Hospital, Medical Genetics Department, between 2015-2017. The local ethics committee approved the study. Next-generation sequencing was performed for the genetic analysis. The genetic, demographic, and clinical features of the participants were characterized.Results: A total of 79 cases of NF1 were included. Of those, 40 were male and 39 were female. The mean age was 11,9 years and most were younger than 18 years. The most common complaint was Cafe-au-lait macules. The 61 (77.3%) patients had pathogenic variants, and 16 (26.2%) were novel. Mostly affected mutation sites were exonic regions(n:54,88.5%). The most common mutated exon was exon 38 (n:7,11.5%), and most of the detected mutations were nonsense mutations (31%).This article has been accepted for publication and undergone full peer review but has not been through the copyediting, typesetting, pagination and proofreading process, which may lead to differences between this version and the Version of Record.

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Section: Discussionmentioning

confidence: 91%

Section: Resultsmentioning

confidence: 99%

“…The genotype-phenotype correlations can not be established in most cases (11,13,14,17). The gene has the highest mutation rate with 1/10,000 alleles per generation.…”

Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

See 3 more Smart Citations

Detection of Novel NF1 Variants with Next Generation-based DNA Sequencing Technology, and Genotype-Phenotype Characteristics of Neurofibromatosis

Kiraz¹

2022

Erciyes Med J

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A feasible molecular diagnostic strategy for rare genetic disorders within resource-constrained environments

Mudau,

Seymour,

Nevondwe

et al. 2023

J Community Genet

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Timely and accurate diagnosis of rare genetic disorders is critical, as it enables improved patient management and prognosis. In a resource-constrained environment such as the South African State healthcare system, the challenge is to design appropriate and cost-effective assays that will enable accurate genetic diagnostic services in patients of African ancestry across a broad disease spectrum. Next-generation sequencing (NGS) has transformed testing approaches for many Mendelian disorders, but this technology is still relatively new in our setting and requires cost-effective ways to implement. As a proof of concept, we describe a feasible diagnostic strategy for genetic disorders frequently seen in our genetics clinics (RASopathies, Cornelia de Lange syndrome, Treacher Collins syndrome, and CHARGE syndrome). The custom-designed targeted NGS gene panel enabled concurrent variant screening for these disorders. Samples were batched during sequencing and analyzed selectively based on the clinical phenotype. The strategy employed in the current study was cost-effective, with sequencing and analysis done at USD849.68 per sample and achieving an overall detection rate of 54.5%. The strategy employed is cost-effective as it allows batching of samples from patients with different diseases in a single run, an approach that can be utilized with rare and less frequently ordered molecular diagnostic tests. The subsequent selective analysis pipeline allowed for timeous reporting back of patients results. This is feasible with a reasonable yield and can be employed for the molecular diagnosis of a wide range of rare monogenic disorders in a resource-constrained environment.

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Functional restoration of mouse Nf1 nonsense alleles in differentiated cultured neurons

Iyer²,

Wolfe³

et al. 2022

J Hum Genet

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Mutational spectrum of NF1 gene in 24 unrelated Egyptian families with neurofibromatosis type 1

Cited by 9 publications

References 69 publications

Detection of Novel NF1 Variants with Next Generation-based DNA Sequencing Technology, and Genotype-Phenotype Characteristics of Neurofibromatosis

Detection of Novel NF1 Variants with Next Generation-based DNA Sequencing Technology, and Genotype-Phenotype Characteristics of Neurofibromatosis

A feasible molecular diagnostic strategy for rare genetic disorders within resource-constrained environments

Functional restoration of mouse Nf1 nonsense alleles in differentiated cultured neurons

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