[Variant analysis of CCBE1 gene in a case of Hennekam lymphangiectasia-lymphedema syndrome type 1].

OBJECTIVE To explore the genetic etiology of a child with lymphangiectasia and lymphedema. METHODS DNA sample of the patient was extracted and subjected to whole exome sequencing. Suspected variants were verified by Sanger sequencing. RESULTS The patient was found to carry compound heterozygote variants (c.521G>A and c.472C>T) of the CCBE1 gene, which were respectively inherited from his parents. CONCLUSION The compound heterozygote variants of the CCBE1 gene probably underlie the disease in this child.