Five novel NF1 gene pathogenic variants in 10 different Chinese families with neurofibromatosis type 1.

ABSTRACT:

Background

Neurofibromatosis type 1 (NF1) is an autosomal dominant disorder with equal sex incidence that is characterized by neurofibromas, café-au-lait macules, axillary freckling, optic pathway tumor, distinctive osseous lesion, and iris Lisch nodules. Inactivating variants in the NF1 gene have been identified to be correlated with NF1. This tumor suppressor gene is located at 17q11.2.

Methods

Ten affected NF1 probands and their available relatives from 10 unrelated Chinese families with neurofibromatosis type 1 were clinically studied. All of these probands mainly complained of osseous lesions. PCR was used to analyze and sequence the variants. We collected both laboratory and radiological information.

Results

We detected five novel pathogenic variants including t

SUBMITTER: Chen L 

PROVIDER: S-EPMC6732320 | biostudies-literature | 2019 Sep

REPOSITORIES: biostudies-literature