Abstract
OBJECTIVE To identify potential mutation in a patient with cutis laxa through exome sequencing of genetic disease-related genes and explore its clinical and genetic features. METHODS Clinical data was collected for the proband and her parents. Exome sequencing was carried out on the proband. Suspected mutations were verified by Sanger sequencing. RESULTS Exome sequencing identified a compound heterozygous mutation of the ATP6V0A2 gene, c.187C>T (p.R63X) and c.1189G>C (p.A397P), in the proband. The mutations were respectively inherited from the father and mother. The patient was diagnosed with autosomal recessive cutis laxa type 2A (ARCL2A). CONCLUSION A case with ARCL2A was diagnosed. The novel mutation has expanded the spectrum of ATP6V0A2 mutations. Exome sequencing is a useful tool for the diagnosis of complex genetic diseases.
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