期刊
CLINICAL COSMETIC AND INVESTIGATIONAL DERMATOLOGY
卷 15, 期 -, 页码 815-821出版社
DOVE MEDICAL PRESS LTD
DOI: 10.2147/CCID.S363683
关键词
Chinese; incontinentia pigmenti; mutation; NEMO gene; NF-kappa B pathway
类别
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.
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.
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