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. 2018 Sep 18;11(9):1562-1565.
doi: 10.18240/ijo.2018.09.22. eCollection 2018.

A novel NF1 frame-shift mutation c.703_704delTA in a Chinese pedigree with neurofibromatosis type 1

Jun Chen  1 , Bo Guo  1 , Min Ren  2 , Hong Lin  1 , Xin Zhang  1 , Si-Yi Chen  1 , Xiao-Tian Yu  1 , Zhu-Ping Xu  1
Affiliations

A novel NF1 frame-shift mutation c.703_704delTA in a Chinese pedigree with neurofibromatosis type 1

Jun Chen et al. Int J Ophthalmol. .

Abstract

We analyzed the clinical features and NF1 gene mutation in a Chinese pedigree of neurofibromatosis type 1 (NF1). Three members of this family were NF1 patients presenting with different clinical phenotypes and the others were asymptomatic. Exons of NF1 were amplified by polymerase chain reaction, sequenced, compared with a reference database. One novel NF1 frame-shift mutation c.703_704delTA, which resulted in a premature stop signal at codon 720 and the synthesis of truncated, was revealed. This mutation segregated with the NF1 members is likely responsible for the pathogenesis of NF1 in the family.

Keywords: NF1 gene; frame-shift mutation; neurofibromatosis type 1.

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Figures

Figure 1
Figure 1. Pedigree of the Chinese NF1 family. III-1 and III-2 were the proband.
Figure 2
Figure 2. Clinical manifestations of patients in the Chinese family
A: Photo of the proband (III-1) showed tumor under scalp and many café-au-lait macules on the neck; B: MR imaging of III-1 showed tumor was hyperintense on T2-weighted image; C: Photo of the proband (III-2) showed tumor involved orbit, face, forehead and fossae termporalis; D: Typical sphenoid wing dysplasia of III-2 on CT; E: Photo of II-4 showed subcutaneous neurofibromas and multiple café-au-lait macules scattered on her right arm; F: Biopsy of III-2 (HE staining, magnification 400×) revealed that the main entity of neurofibroma is composed of spindle and oval Schwann cells; G: Photo of the proband (III-2) showed big café-au-lait macule on her trunk.
Figure 3
Figure 3. Sequencing results of the NF1 gene
A: Wild-type sequence from an asymptomic member; B: Frame-shift mutation c.703_704delTA of the NF1 gene (arrow) found in all patients.
Figure 4
Figure 4. Base sequence of NF1 gene from 676 to 720 and its corresponding amino acid
A: Base sequence of normal allele; B: Base sequence of mutation allele. The thymine and adenine in codon 703 and 704 was deleted and formed a termination codon in codon from 718 to 720 (thymine, guanine and adenine).
See this image and copyright information in PMC

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