Table 3. Phenotypic characters, frequency, and localization of the seven SHOX gene polymorphic sites in the Idiopathic short stature group sample.
| Parameter | Exon-1 | Exon-2 | Exon-4 | Exon-6 | |||
|---|---|---|---|---|---|---|---|
| c.-646_-645 InsTGT |
c. -512C>A | c. -507G>C | c. -372G>A | c. 528G>C | *41C>A |
*284-285 InsAG |
|
| Age (yr) | 10.8±2.8 | 11.16±2 | 11.3±1.9 | 11.2±2.7 | 5.5 | 14.9±2.5 | 13 |
| Sex | |||||||
| Male | 3 | 5 | 8 | 6 | - | - | 1 |
| Female | 5 | 1 | 10 | 8 | 1 | 2 | - |
| Frequency | 7% | 5% | 17% | 13% | 1% | 2% | 1% |
| Weight (kg) | 23.65±5.4 | 26.86±8.6 | 23.44±9.9 | 26.97±10 | 12.8 | 32.95±11.1 | 27 |
| Height (cm) | 122.8±12.9 | 123±10.3 | 116.7±17.5 | 123.3±10.8 | 92.5 | 135.1±6.9 | 132.8 |
| Arm span (cm) | 117.9±12.2 | 118.1±10.1 | 111.6±17.3 | 118.2±10.2 | 88.5 | 129.1±7 | 127.7 |
| Sitting height (cm) | 69.05±7.4 | 68.7±5.9 | 65.7±9.2 | 69.3±6.1 | 52.8 | 76.3±3.3 | 74 |
| Subischeal leg length (cm) | 53.8±5.6 | 54.3±4.4 | 50.9±8.4 | 53.9±4.7 | 39.7 | 58.8±3.6 | 58.8 |
| Paternal height (cm) | 163.6±6.5 | 163.4±5.3 | 163.2±6.9 | 164.3 ±7.3 | 170 | 165±9 | 0170 |
| Maternal height (cm) | 152.3±3.9 | 151.5±4 | 153±5.2 | 152.4±6.6 | 152 | 152±4 | 0146.5 |
| Localization | Promoter | Promoter | Promoter | 5'UTR | Homeobox | 6a- 3'UTR | 6a- 3'UTR |
| Amino acid | - | - | - | - | p.(Glu176Asp) Homeodomain | - | - |
| SHOX database ID | Novel | SHOX_00365 | SHOX_00366 | SHOX_00064 | SHOX_00102 | Novel | Novel |
| RefSNP | Novel | Solc et al.14) (2014) | Solc et al.14) (2014) | Solc et al.14) (2014) | rs778921118 | Novel | Novel |
| Submission number | ss1753009960 | ss1753009945 | ss1753009557 | SCV000301477 | SCV000301479 | SCV000301480 | SCV000301481 |
Values are presented as mean±standard deviation.
Sequence variants are described according to Human Genome Variation Society recommendations based on the coding DNA reference sequence (NM_006883.2).