Table 1.
Gene Mutations and Patient Information
| No. | Ethnic group | Gender | Age | DSH type | Lesion | Onset time | Mutation location | Nucleotide change | Protein change | Reported or not | Mutation type |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 1 | Han | M | 8y | Familial | Extremities | 3y | Exon 13 | c.3233G>A | p.(Arg1078His) | Novel | Missense |
| 2 | Han | M | 8y | Familial | Extremities, face | 3y | Exon 13 | c.3286C>T | p.(Arg1096*) | Reported | Nonsense |
| 3 | Han | M | 22y | Sporadic | Extremities | 3y | Intron 11 | c.3019 + 1G>T | Unknown | Novel | Splice-site |
| 4 | Han | M | 7y | Sporadic | Extremities, face | 1y | Exon 11 | c.2894C>A | p.(Pro965Gln) | Novel | Missense |
| 5 | Han | M | 36y | Familial | Extremities | 2y | Exon 2 | c.1202_1205del | p.(Asn401fs) | Novel | Frame-shift |
| 6 | Han | F | 11y | Sporadic | Extremities | 2y | Exon 7 | c.2280C>A | p.(Tyr760*) | Novel | Nonsense |
| 7 | Han | F | 34y | Sporadic | Extremities, face | 6y | Intron 4 | c.1934 + 3A>G | Unknown | Novel | Splice-site |
| 8 | Han | M | 7y | Familial | Extremities | 2y | Exon 3 | c.1615del | p.(Val539fs) | Reported | Frame-shift |
| 9 | Han | F | 12y | Sporadic | Extremities | 6y | Exon 9 | c.2749A>G | p.(Arg917Gly) | Novel | Missense |
| 10 | Han | F | 10y | Familial | Extremities | 10y | Exon 2 | c.1371_1372insCCACAGAT | p.(Asp458fs) | Reported | Frame-shift |
| 11 | Han | M | 41y | Familial | Extremities, face | 2y | Intron 13 | c.3315 + 1G>A | Unknown | Reported | Splice-site |
| 12 | Han | F | 63y | Familial | Extremities | 3y | Exon 7 | c.2433_2434del | p.(Thr811fs) | Reported | Frame-shift |
| 13 | Han | M | 16y | Familial | Extremities, knee | 1m | Exon 7 | c.2310_2311insA | p.(Ala771fs) | Novel | Frame-shift |
m, months; y, years.