Li Cuilian, Liu Ling, Ma Jing, Zu Jinyan, Ma Xiuli, Sun Meihua, Shu Hong, Zhou Jun
Department of Emergency，Kunming Children's Hospital，Kunming，650228，China.
Department of Neonatology，Kunming Children's Hospital.
Lin Chuang Er Bi Yan Hou Tou Jing Wai Ke Za Zhi. 2022 Mar;36(3):212-216. doi: 10.13201/j.issn.2096-7993.2022.03.011.
To detect genetic mutations in a case of laryngo-onycho-cutaneous syndrome, and to explore the possible molecular biological pathogenic causes. With informed consent, the family clinical data of the child with laryngo-onycho-cutaneous syndrome were collected, peripheral blood of the protester and his parents was collected and DNA was extracted, and gene detection was performed by high-throughput sequencing method. Sanger sequencing was used to verify and analyze the mutation sites of the probs and their families. Genetic testing of the proband revealed homozygous mutation of LAMA3 gene c.171+1G>A site, which is splicing mutation. There was no report in the literature, which was a new mutation site. The parents of the proband had normal phenotype and heterozygous mutation at this locus was detected. Homozygous mutation of LAMA3 c.171+1G>A is the likely pathogenic of the proband, and this study expands the mutant spectrum of LAMA3. The clinical phenotype of laryngo-onycho-cutaneous syndrome is highly variable, and the multidisciplinary diagnosis and treatment can effectively avoid missed diagnosis and misdiagnosis.
检测1例喉-甲-皮肤综合征患者的基因突变情况，探讨其可能的分子生物学致病原因。经知情同意，收集该喉-甲-皮肤综合征患儿的家族临床资料，采集先证者及其父母的外周血并提取DNA，采用高通量测序方法进行基因检测。用Sanger测序法对先证者及其家系的突变位点进行验证和分析。先证者基因检测显示LAMA3基因c.171+1G>A位点纯合突变，为剪接突变。文献中未见报道，此为新的突变位点。先证者父母表型正常，该位点检测到杂合突变。LAMA3基因c.171+1G>A纯合突变可能是先证者的致病原因，本研究扩展了LAMA3基因的突变谱。喉-甲-皮肤综合征的临床表型高度异质性，多学科诊疗可有效避免漏诊和误诊。
