伴有法洛三联征的I型神经纤维瘤病

A case of neurofibromatosis type 1 with trilogy of Fallot

报告1例伴有法洛三联征的I型神经纤维瘤病。患儿男,2岁4个月。全身散在咖啡斑2年4个月。生后2个月发现法洛三联征,已手术修补。母亲与患儿全身弥漫性分布大量咖啡斑。应用目标捕获高通量测序和Sanger测序技术发现患儿及母亲外周血DNA中NF1基因第4b外显子发生c.541C>T(p.Gln181Ter)无义突变,其父亲未见相同突变。诊断:伴有法洛三联征的I型神经纤维瘤病。

A case of neurofibromatosis type 1 with trilogy of Fallot is reported.A 2-year and 4 months boy presented with café-au-lait spots scattered over the body at birth.The patient was found to have trilogy of Fallot at 2 months after birth,which had been surgically repaired.His mother also presented with diffuse café-au-lait spots scattered over the body.Peripheral blood samples were collected from the family.Mutation analysis of the family was performed with target captured next generation sequencing and Sanger sequencing.A heterozygous nonsense mutation in exon 4b of NF1 gene,c.541C>T(p.Gln181Ter)was revealed in the blood DNA of the child and his mother,and the same mutation was absent in his unaffected father.A diagnosis of neurofibromatosis type 1 with trilogy of Fallot was made.