[A pedigree study of laryngo-onycho-cutaneous syndrome with a novel mutation on LAMA3 gene].

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.