U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

NF1 Gene Deletion

MedGen UID:
1656993
•Concept ID:
C4727132
•
Cell or Molecular Dysfunction
Synonyms: Neurofibromin 1 Gene Deletion; NF1 Deletion; NFNS Gene Deletion

Definition

A molecular abnormality referring to the loss of at least one copy of the NF1 gene. [from NCI]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVNF1 Gene Deletion

Professional guidelines

PubMed

The NF1 microdeletion syndrome: early genetic diagnosis facilitates the management of a clinically defined disease.
Kehrer-Sawatzki H, Bäzner U, Krämer J, Lewerenz J, Pfeiffer C
J Dtsch Dermatol Ges 2022 Mar;20(3):273-277. Epub 2022 Mar 4 doi: 10.1111/ddg.14707. PMID: 35246941
Atypical NF1 Microdeletions: Challenges and Opportunities for Genotype/Phenotype Correlations in Patients with Large NF1 Deletions.
Kehrer-Sawatzki H, Wahlländer U, Cooper DN, Mautner VF
Genes (Basel) 2021 Oct 19;12(10) doi: 10.3390/genes12101639. PMID: 34681033Free PMC Article
Emerging genotype-phenotype relationships in patients with large NF1 deletions.
Kehrer-Sawatzki H, Mautner VF, Cooper DN
Hum Genet 2017 Apr;136(4):349-376. Epub 2017 Feb 17 doi: 10.1007/s00439-017-1766-y. PMID: 28213670Free PMC Article

Recent clinical studies

Etiology

Evaluation of Molecular and Clinical Findings in Children With Neurofibromatosis Type 1: Identification of 15 Novel Variants.
Bildirici Y, Kocaaga A, Karademir-Arslan CN, Yimenicioglu S
Pediatr Neurol 2023 Dec;149:69-74. Epub 2023 Sep 11 doi: 10.1016/j.pediatrneurol.2023.08.036. PMID: 37806041
Germline mutations in NF1 patients with malignancies.
Wu R, López-Correa C, Rutkowski JL, Baumbach LL, Glover TW, Legius E
Genes Chromosomes Cancer 1999 Dec;26(4):376-80. PMID: 10534774

Diagnosis

Evaluation of Molecular and Clinical Findings in Children With Neurofibromatosis Type 1: Identification of 15 Novel Variants.
Bildirici Y, Kocaaga A, Karademir-Arslan CN, Yimenicioglu S
Pediatr Neurol 2023 Dec;149:69-74. Epub 2023 Sep 11 doi: 10.1016/j.pediatrneurol.2023.08.036. PMID: 37806041
Neurofibromin in neurofibromatosis type 1 - mutations in NF1gene as a cause of disease.
Abramowicz A, Gos M
Dev Period Med 2014 Jul-Sep;18(3):297-306. PMID: 25182393
Familial spinal neurofibromatosis due to a multiexonic NF1 gene deletion.
Pizzuti A, Bottillo I, Inzana F, Lanari V, Buttarelli F, Torrente I, Giallonardo AT, De Luca A, Dallapiccola B
Neurogenetics 2011 Aug;12(3):233-40. Epub 2011 Mar 2 doi: 10.1007/s10048-011-0278-5. PMID: 21365283

Clinical prediction guides

Deletion of the whole NF1 gene in a three-generation family with neurofibromatosis type 1.
Du Q, Chen H, Zhou H
Neurol Sci 2022 Feb;43(2):1295-1301. Epub 2021 Jun 5 doi: 10.1007/s10072-021-05353-5. PMID: 34089417

Supplemental Content

Table of contents

    Practice guidelines

    • PubMed
      See practice and clinical guidelines in PubMed. The search results may include broader topics and may not capture all published guidelines. See the FAQ for details.

    Related information

    • PMC Articles
      Related information in PubMed Central Links
    • PubMed
      Related literature resources in PubMed

    Recent activity

    Clear Turn Off Turn On

    Your browsing activity is empty.

    Activity recording is turned off.

    Turn recording back on

    See more...