Table 1.
Diagnostic variants of the proband and parents.
| Sample | Gene | Exome | Chromosome | HGVS DNA | HGVS Protein | Heterozygosity | Inheritance | Classification |
|---|---|---|---|---|---|---|---|---|
| Proband | PIEZO1 | Exon27 | Chr16:88792765 | c.3895C > T | p.R1299C | Heterozygous | paternal | VUS |
| PIEZO1 | exon28 | Chr16:88792029-88792031 | c.4030_4032del | p.E1344del | Heterozygous | Maternal | VUS | |
| Father | PIEZO1 | exon27 | Chr16:88792765 | c.3895C > T | p.R1299C | Heterozygous | – | VUS |
| PIEZO1 | exon28 | Chr16:88792029-88792031 | c.4030_4032del | p.E1344del | Not detected | – | – | |
| Mather | PIEZO1 | exon27 | Chr16:88792765 | c.3895C > T | p.R1299C | Not detected | – | – |
| PIEZO1 | exon28 | Chr16:88792029-88792031 | c.4030_4032del | p.E1344del | Heterozygous | – | VUS |
HGVS, human genome variation society; VUS, variants of uncertain significance.