Table 2.
CYP26C1 Sanger sequencing results in this family and other FFDD type IV patients
| Family memberd | Affected | CYP26C1 exon 4 | CYP26C1 exon 6 |
|---|---|---|---|
| I-2 | No | +a/c.844_851dupCCATGCAb | +/+ |
| I-3 | No | +/+ | +/c.1433A>Gc |
| II-1 | No | +/+ | +/+ |
| II-2 | No | +/c.844_851dupCCATGCA | +/+ |
| II-3 | Yes | +/c.844_851dupCCATGCA | +/ c.1433A>G |
| II-4 | Yes | +/c.844_851dupCCATGCA | +/ c.1433A>G |
| II-5 | No | +/c.844_851dupCCATGCA | +/+ |
| Patient 3, this paper (3) | Yes | c.844_851dupCCATGCA/c.844_851dupCCATGCA | +/+ |
| Patient 4, this paper (3) | Yes | c.844_851dupCCATGCA/ c.844_851dupCCATGCA | +/+ |
| Patient 5, this paper | Yes | c.844_851dupCCATGCA/ c.844_851dupCCATGCA | +/+ |
a+Wild type; c.844_851dupCCATGCA.
bc.844_851dupCCATGCA, predicting p.Glu284fsX128; c.1433G>A.
cc.1433A>G, predicting p.Arg478His.
dFor family pedigree information, please see Materials and Methods, exome sequencing.