Mutation Detection Of The Pathogenic Gene In A Pedigree With Reticular Pigmented Anomaly Of The Flexures

Objective:To identify the pathogenic gene in a pedigree with reticular pigmented anomaly of the flexures,expand the database of gene mutations for reticular pigmented anomaly of the flexures.Method:Review of reticular pigmented anomaly of the flexures mutation sites of POFUT1 gene at home and abroad,Genomic DNA was extracted from family members of reticular pigmented anomaly of the flexures,All mutation sites sequence of POFUT1 were amplified by polymerase chain reaction（PCR）followed by direct sequencing.If the mutation is not present POFUT1 gene then perform exome sequencing to detect candidate pathogenic genes.Used the software Mutation Taster forecast those suspicious mutations,suspicious mutations were verified by Sanger sequencing in patients,phenotypic normal members and 100 healthy controls.Result:（1）The POFUT1 gene was excluded in this family with reticular pigmented anomaly of the flexures.（2）The pathogenic genes of the two patients（propositus and her father）were detected by exon sequencing technology,we did not find any abnormal in reported pathogenic gene（KRT5,POFUT1,POGLUT1）of reticular pigmented anomaly of the flexures.We speculated a frame-shift mutations c.168₁69del TG in the exon 1 of the PSENEN gene could be most likely pathogenic mutations for this family of.3)Detected affecting individuals and normals in this family by using PCR sequencing,we observed that the mutation c.168₁69del TG in PSENEN gene is present in affecting individuals and absent in normals and did not find in 100 unrelated healthy controls.Conclusion:The pathogenic mutation which causes reticular pigmented anomaly of the flexures in this family was not located in the KRT5,POFUT1 and POGLUT1 gene.The result suggested that the frame-shift mutation c.168₁69del TG of the PSENEN gene ispathogenic mutations for this family.