Novel, heterozygous, pathogenic variant (c.4272delA: p.I1426Ffs*2) for the NF1 gene in a large Chinese family with neurofibromatosis type 1-Reference-Cited by-同舟云学术

Novel, heterozygous, pathogenic variant (c.4272delA: p.I1426Ffs*2) for the NF1 gene in a large Chinese family with neurofibromatosis type 1

Published:2022-11-18 Issue:2 Volume:50 Page:1117-1123
ISSN:0301-4851
Container-title:Molecular Biology Reports
language:en
Short-container-title:Mol Biol Rep

Author:

Yang Lisha,Fu Jiewen,Cheng Jingliang,Zhou Baixu,Liu Xiaoyan,Anuchapreeda Songyot,Fu Junjiang^ORCID

Funder

National Natural Science Foundation of China

Publisher

Springer Science and Business Media LLC

Subject

Genetics,Molecular Biology,General Medicine

Link

https://link.springer.com/content/pdf/10.1007/s11033-022-08096-4.pdf

Reference34 articles.

1. Shannon KM, O’Connell P, Martin GA et al (1994) Loss of the normal NF1 allele from the bone marrow of children with type 1 neurofibromatosis and malignant myeloid disorders. N Engl J Med 330:597–601

2. Sorensen SA, Mulvihill JJ, Nielsen A (1986) Long-term follow-up of von Recklinghausen neurofibromatosis. Survival and malignant neoplasms. New Engl J Med 314:1010–1015

3. Jin P, Yan K, Ye S et al (2021) Case Report: a synonymous mutation in NF1 located at the non-canonical splicing site leading to exon 45 skipping. Front Genet 12:772958

4. Bernier A, Larbrisseau A, Perreault S (2016) Cafe-au-lait macules and neurofibromatosis type 1: a review of the literature. Pediatr Neurol 60(24–9):e1

5. Alshahrani A, Abuoliat Z, Alshahrani AS et al (2022) Prevalence of associated endocrine diseases in patients with neurofibromatosis type 1. Avicenna J Med 12:16–20

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