Jiang Jingjing, Zeng Junjie, He Qi, Yang Jiao, Wang Shenglan, Zhang Zhengzhong
Department of Dermatology, Affiliated Hospital of North Sichuan Medical College, Nanchong, Sichuan Province, People's Republic of China.
Department of Dermatology, Taikang Sichuan Southwest Hospital Company Limited, Chengdu, Sichuan Province, People's Republic of China.
Clin Cosmet Investig Dermatol. 2022 May 5;15:815-821. doi: 10.2147/CCID.S363683. eCollection 2022.
To identify the mutations of the NEMO gene in two Chinese females with incontinentia pigmenti.
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.
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.
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.
鉴定两名患有色素失禁症的中国女性患者中NEMO基因的突变情况。
两名患者均来自四川省南充市。从患者及患者1的父亲外周血中提取基因组DNA。采用缺口聚合酶链反应（GAP polymerase chain reaction）和桑格测序法检测患者1及其父亲的NEMO基因突变情况。运用NEMO特异性聚合酶链反应和桑格测序法鉴定患者2的NEMO基因突变。
DNA分析在有家族病史的患者1的NEMO基因第5外显子中鉴定出一种罕见的移码突变，即c.723_c.724insCAGG（p.A242QfsX15），而其健康父亲未检测到该突变。在散发型患者2中发现了NEMO基因第4至10外显子的常见缺失。
我们的数据表明，患者1的NEMO基因第5外显子中罕见的移码突变c.723_c.724insCAGG（p.A242QfsX15）以及患者2的NEMO基因第4至10外显子缺失可能导致色素失禁症的发生。基因检测有助于早期诊断及为家庭提供遗传咨询。
