Table 3.
Phenotype and genotype information for patients with SHOX deficiency for whom near-adult height data were reported at the time of analysis
| GeNeSIS (n = 90) | Clinical trial (n = 28) | |
|---|---|---|
| Phenotype | ||
| Leri-Weill syndrome | 56 (62%) | 17 (61%) |
| Non-syndromic short stature | 34 (38%) | 11 (39%) |
| Genotype | ||
| Deletion | 43 (48%) [77%] | 22 (79%) |
| Mutation | 9 (10%) [16%] | 5 (18%) |
| Translocation | 1 (1%) [2%] | 0 |
| Duplication | 1 (1%) [2%] | 1 (4%) |
| Regulatory region alteration | 2 (2%) [4%] | N/A |
| No identified alteration/no test | 34 (38%) | N/A |
Data show numbers of patients with phenotype/genotype (percentage of total number of patients for whom near-adult height was reported) [percentage of the 56 GeNeSIS patients with identified genetic alteration for whom near-adult height was reported]. Assignments of genetic alterations were based on the available reported data and reflect the classification of individual patients by their clinician. N/A, not applicable; SHOX, short stature homeobox-containing gene.