NEMO Gene Mutations in Two Chinese Females with Incontinentia Pigmenti

Purpose: To identify the mutations of the NEMO gene in two Chinese females with incontinentia pigmenti. Patients and Methods: Patients were both from Nanchong, Sichuan Province. Genomic DNA was extracted from the peripheral blood of patients and patient 1's father. The mutations of the NEMO gene in patient 1 by GAP polymerase chain reaction and Sanger sequencing and her father were detected. NEMO-specific polymerase chain reaction and Sanger sequencing were used to identify the NEMO gene mutation in patient 2. Results: DNA analysis identified a rare frameshift mutation, c.723_c.724insCAGG(p.A242QfsX15) in exon 5 of the NEMO gene in patient 1 with a family history but not in her healthy father. The common deletion of exons 4-10 of the NEMO gene was found in sporadic patient 2. Conclusion: Our data revealed that the rare frameshift mutation, c.723_c.724insCAGG(p.A242QfsX15) in exon 5 of the NEMO gene in patient 1 and the deletion of exons 4-10 of the NEMO gene in patient 2 could cause the occurrence of IP. Genetic testing is helpful for early diagnosis and genetic counseling for families.

Automated summary

The study aimed to identify NEMO gene mutations in two Chinese females with incontinentia pigmenti. The results showed a rare frameshift mutation in exon 5 of the NEMO gene in patient 1 with a family history, and a common deletion of exons 4-10 of the NEMO gene in sporadic patient 2. Genetic testing is helpful for early diagnosis and genetic counseling for families.