Abstract: Objective: To detect the mutation of NEMO gene in a Chinese Han predigree with incontinentia pigmenti (IP). Methods: The data of the predigree, including 2 patients and 1 normal, was collected and DNA was extracted from peripheral blood of the predigree and 100 healthy controls. DNA was amplified and the mutation was detected by sanger sequencing of the exons regions and flanking introns of NEMO gene. The presence of large fragment deletion in this gene was detected by MLPA. Results: A novel frameshift mutation, c.723_c.724 -insCAGG in exon 5 was found in NEMO gene in two patients, which was not detected in the normal family member, as well as 100 healthy blood samples. Conclusion: The mutation of c.723_c.724insCAGG in NEMO gene may be involved in the occurrence of incontinentia pigmenti in this pedigree.

Key words: incontinentia pigmenti, NEMO gene, mutation