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

被引：0
作者：
Lisha Yang
Jiewen Fu
Jingliang Cheng
Baixu Zhou
Xiaoyan Liu
Songyot Anuchapreeda
Junjiang Fu
机构：
[1] Southwest Medical University,Key Laboratory of Epigenetics and Oncology, The Research Center for Preclinical Medicine
[2] The Affiliated Hospital of Southwest Medical University,Department of Obstetrics
[3] Chiang Mai University,Department of Medical Technology, Faculty of Associated Medical Sciences
[4] Guangdong Women and Children Hospital,Department of Gynecology and Obstetrics
[5] Chiang Mai University,Center for Research and Development of Natural Products for Health
来源：
Molecular Biology Reports | 2023年 / 50卷
关键词：
Neurofibromatosis type 1 (NF1); Truncated protein; Whole exome-sequencing (WES); Novel variant;
D O I：
暂无
中图分类号：
学科分类号：
摘要：
引用
收藏
页码：1117 / 1123
页数：6
相关论文
共 95 条
  • [1] Shannon KM(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] O'Connell P(1986)Long-term follow-up of von Recklinghausen neurofibromatosis. Survival and malignant neoplasms New Engl J Med 314 1010-1015
  • [3] Martin GA(2021)Case Report: a synonymous mutation in NF1 located at the non-canonical splicing site leading to exon 45 skipping Front Genet 12 16-20
  • [4] Sorensen SA(2016)Cafe-au-lait macules and neurofibromatosis type 1: a review of the literature Pediatr Neurol 60 124-133
  • [5] Mulvihill JJ(2022)Prevalence of associated endocrine diseases in patients with neurofibromatosis type 1 Avicenna J Med 12 442-445
  • [6] Nielsen A(2009)Neurofibromatosis type 1 revisited Pediatrics 123 20-24
  • [7] Jin P(2001)Visual loss in children with neurofibromatosis type 1 and optic pathway gliomas: relation to tumor location by magnetic resonance imaging Am J Ophthalmol 131 864-866
  • [8] Yan K(1989)Precise localization of NF1 to 17q11.2 by balanced translocation Am J hum genet 44 88-92
  • [9] Ye S(1991)A de novo Alu insertion results in neurofibromatosis type 1 Nature 353 1092-1101
  • [10] Bernier A(1997)Mutational and functional analysis of the neurofibromatosis type 1 (NF1) gene Hum Genet 99 1-8
12345678910