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Novel mutations in one allele in a Chinese family with neurofibromatosis type 1: Including a complex insertion–deletion mutation
Author(s) -
Zhu Lude,
Shi Lei,
Wang Bo,
Bi Mingye,
Pu Jie,
Zhang Linglin,
Zhang Yunfeng,
Wang Xiuli,
Zhang Guolong
Publication year - 2016
Publication title -
the journal of dermatology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.9
H-Index - 65
eISSN - 1346-8138
pISSN - 0385-2407
DOI - 10.1111/1346-8138.13498
Subject(s) - neurofibromatosis , genetics , allele , mutation , biology , pathogenesis , polymerase chain reaction , point mutation , pathological , gene , medicine , pathology , immunology
Neurofibromatosis type 1 ( NF 1) is a hereditary disease with variable clinical manifestations. This study was performed in a Chinese three‐generation family containing two members with NF 1. Two novel mutations, c.853_854ins TC and c.1975_1976delins TA , were identified in the same allele in both patients by direct sequencing. By reverse transcription polymerase chain reaction, we found that the NF 1 transcript contained the first mutation instead of the second mutation, suggesting a pathological role of c.853_854ins TC mutation. Case reports of patients with two NF 1 mutations in the same allele have not been reported. Our findings expand the known spectrum of NF 1 mutations and the ongoing recognition of different mutations may give insight into the mysterious NF 1 pathogenesis.