1. Clinical And Pathogenic Gene Analysis Of 4 Cases Of Chinese Han People With Sporadic Neurofibromatosis 2. Clinical Analysis And Genetic Diagnosis Of A Hereditary Sweaty Ectodermal Dysplasia Family In Han Nationality Of China

BackgroundNeurofibromatosis?NF?,a clinical heterogeneous disease developed by Von Reiclinhausen in 1882 with various manifestations of skin,soft tissue,blood vessels,and peripheral and central nervous system.Neurofibromatosis is a relatively common autosomal dominant inherited disease.According to the clinical phenotype and genetic factors,neurofibromatosis is divided into three main types.NFl and NF2 mainly due to the mutation of NF1 gene and NF2 gene,while SMARCB1 and LZTR1 may be susceptibility genes of Schwannomatosis.In recent years,the pathogenesis researchs of neurofibromatosis have made great progress,however,due to the large size and various types of mutations,the relationship between genotypes and clinical phenotypes of neurofibromatosis is not clear yet.ObjectiveTo identify the pathogenic mutations of NFl,NF2,SMARCBI and LZTR1 genes in 4 patients with sporadic neurofibromatosis who are difficult to be differentiated by clinical phenotypes.MethodExtract DNA from the blood samples and the epidermal tissues of the 4 patients.Design primers and make sure they were designed to encode all the exons and intron-exon boundaries of NF1,NF2,SMARCB1 and LZTR1 genes.Sequence analysis was performed by PCR and Sanger sequencing.ResultsFour mutations were found in this study.One known heterozygous mutation site c.4332 + 2T>C,and three denovo mutations c.5513₅513delCT,c.3641 A>C?p.N1154T?and c.3892C>T?p.Q1298*?.ConclusionMutations:c.4332 + 2T>C,c.5513₅513delCT,c.3641A>C?p.N1154T?and c.3892C>T?p.Q1298*?of NF1 may be the main cause of the clinical phenotype of the patients in this study.BackgroundHidrotic ectodermal dysplasia,?HED?,also known as Clouston syndrome,the incidence rate is about 1/1000000,is a autosomal dominant disease.HED is a clinical characteristics of malnutrition,hair defects and palmoplantar keratosis-based.The disease mainly caused by the mutations of the GJB6 gene,which is located between 13q11-q12.1.Nowadays,there is a significant increase in diseases associated with connexins portein,and the understanding of the molecular basis of HED provides an effective method for the diagnosis of HED patients.However,there is no effective treatment for HED.Therefore,the current prenatal diagnosis is the main method of blocking this disease.ObjectiveTo identify the pathogenic mutations of HR,APCDD1,KRT71,KRT74,LIPH,RPL1,DSG4 and GJB6 genes in 3 patients who are from a Chinses family with a history of hair and nails dysplasia.MethodExtract DNA from the blood samples of 3 patients with hair and nail dysplasia.Design primers,make sure they were designed to encode all the coding exons and intron-exon boundaries of HR,APCDD1,KRT71,KRT74,LIPH,RPL1,DSG4 and GJB6 genes.Sequence analysis was performed by PCR and Sanger direct sequencing.ResultsIn this study,one GJB6 gene mutation were found which is a known heterozygous mutation site p.A88V.ConclusionGJB6 gene mutation p.A88V may be the main cause of the clinical phenotype of the family in this study.