Fig. 1.

The new mutation in exon 20 of CLCNKB gene from the patient. Sequencing of the exon 20 in CLCNKB gene was performed in the family. Fig. 1A: A heterozygous C to G transition (black arrow, forward primer) at nucleotide 2471 in exon 20 of CLCNKB gene was shown in the patient, which was also confirmed by sequencing for reverse DNA strands. Fig. 1B: C/C genotype at nucleotide 2471 in exon 20 of CLCNKB gene was shown in her father (black arrow, forward primer). (Genebank accession NG_013079.1).