Variant analysis of CCBE1 gene in a case of Hennekam lymphangiectasia-lymphedema syndrome type 1 / 中华医学遗传学杂志

ABSTRACT

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.