case_images: PMC10157420_01
case_images: Sanger Sequencing electropherogram results of subunits SCNN1A and SCNN1B of the ENaC indicating mutations (arrow). (a) Sequence electropherogram showing a heterozygous c.1000G>A mutation (chr12:6355415 [GRCh38.p14]) in exon 5 of SCNN1A. (b) Sequence electropherogram showing a heterozygous c.1987A>G mutation (chr12:6347896 [GRCh38.p14]) in exon 13 of SCNN1A. (c) Sequence electropherogram showing a heterozygous of SCNN1A c.7G>A (chr16:23348606 [GRCh38.p14] in exon 2 of SCNN1B. (d) Sequence electropherogram showing a heterozygous c1325G>T mutation (chr16:23377219 [GRCh38.p14]) in exon 9 of SCNN1B.
case_images: AJLM-12-1998-g001.jpg
case_images: PMC10157420_01_AJLM-12-1998-g001.jpg
case_images: F0001
case_images: Two sets of compound heterozygous transition mutations were found in the coding regions of the SCNN1A and SCNN1B genes (Figure 1).
case_images: PMC10157420_02