Journal of Shandong University (Health Sciences) ›› 2022, Vol. 60 ›› Issue (4): 128-132.doi: 10.6040/j.issn.1671-7554.0.2021.1011

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Neurofibromatosis type I: a case of novel mutation and review of literature

TIAN Min, CAO Lili, SONG Chengyuan   

  1. Department of Neurology, Qilu Hospital of Shandong University, Jinan 250012, Shandong, China
  • Published:2022-04-22

Abstract: Objective To report the clinical features of a pedigree of clinically confirmed neurofibromatosis type I(NF1)and a novel mutation of NF1 gene. Methods Clinical data of a proband and his family were reviewed, and a comprehensive medical examination and molecular genetic analysis of all family members were performed. Results A missense mutation in exon 14 of the NF1 gene, c.1586T>G, was detected in the proband and his mother, but not in the non-diseased family members or normal controls. Conclusion We identified a novel missense mutation in the NFI gene, which may be responsible for neurofibromatosis type Ⅰ in this family. In addition, NF1 patients with short stature should receive a cranial MRI to rule out tumors in the saddle area, and a growth hormone stimulation test to assess hormone secretion so as to trace the cause of growth retardation.

Key words: Neurofibromatosis type Ⅰ, Novel mutation, Intracranial disease, Growth retardation

CLC Number: 

  • R748
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