Molecular Characterization of NF1 and Neurofibromatosis Type 1 Genotype-Phenotype Correlations in a Chinese Population

• DOI: 10.1038/srep11291
• Publication Date: 2015-06-09T14:51:38Z
• Authors: Jia Zhang; Hanxing Tong; Xi’an Fu; Yong Zhang; Jiangbo Liu; Ruhong Cheng; Jianying Liang; Jie Peng; Zhonghui Sun; Hong Liu; Furen Zhang; Weiqi Lu; Ming Li; Zhirong Yao
• Keywords: Chinese population; Genotype-phenotype distinction

Abstract Neurofibromatosis type 1 ( NF1 ) is an autosomal dominant hereditary disease that primarily characterized by multiple café au-lait spots (CALs) and skin neurofibromas, which are attributed to defects in the tumor suppressor . Because of age-dependent presentation NF1, it often difficult make early clinical diagnosis. Moreover, identifying genetic alterations patients represents a complex challenge. Currently, there no effective detective methods comprehensive mutation data available for mainland China. We screened 109 Chinese from 100 families with NF1-like phenotypes (e.g., CALs, etc.) using Sanger sequencing, multiplex ligation-dependent probe amplification cDNA sequencing. mutations were identified 97 individuals, among 34 intragenic have not previously been reported. Our exhaustive mutational analysis detected 89% (89/100) probands 93% (70/75) subjects fulfilling National Institutes Health (NIH) criteria. findings indicate individuals who exclusively present CALs exhibit high possibility (76%) having show significantly lower rate (p = 0.042) compared fulfill NIH criteria, providing clinicians information only harbor considerable (24%) being other comparable diseases.