NEMO Gene Mutations in Two Chinese Females with Incontinentia Pigmenti.

ABSTRACT:

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 patie

SUBMITTER: Jiang J 

PROVIDER: S-EPMC9084220 | biostudies-literature | 2022

REPOSITORIES: biostudies-literature