A Turkish family with a novel mutation in the promoter region of the C1 inhibitor gene

The control subject had a normal homozygous genotype (Fig 1, B). Because this alteration prevents the consensus sequence for the binding of transcription factors, the consequences on gene expression were planned to be investigated by using the RT-PCR method. [...]unlike the previously reported patients carrying homozygous structural mutations in the coded region of the C1INH gene, who could not benefit from treatment with androgens because of the lack of a wild-type allele, patients with homozygous promoter region mutations can benefit from the treatment.6 In conclusion, we describe here the second autosomal recessive family with a novel mutation affecting the C1INH promoter region (c.-101A>G).