Genetic diagnosis of sporadic neurofibromatosis type 1 with café-au-lait spots as the only presentation in a child

VernacularTitle:基因检测诊断仅有咖啡色斑表现的儿童Ⅰ型神经纤维瘤病一例
Author: Zhonghui SUN ; Ming LI ; Yunyi GUO ; Zhirong YAO
Publication Type:Journal Article
From: Chinese Journal of Dermatology 2013;46(7):511-512
CountryChina
Language:Chinese
Abstract: Objective To make a genetic diagnosis of sporadic neurofibromatosis type 1 with café-au-lait spots as the only presentation in a child.Methods Blood samples were collected from an 8-year-old child patient,his parents,and 100 healthy human controls.The mutation of NF1 gene was detected by PCR and direct sequencing.Results No mutation was detected in the NF1 gene of the parents or the healthy controls.There was a de novo nonsense mutation c.3520C ＞ T (p.Q1174X) in the NF1 gene of the patient,which leaded to a premature termination codon.Conclusions The child with café-au-lait spots as the only manifestation is diagnosed with sporadic neurofibromatosis type 1 by genetic testing.The mutation c.3520C ＞ T (p.Q1174X) may be an underlying cause of neurofibromatosis type 1.