Table 4 Intervention in affected 200 exome individuals with mutations in known short-stature genes
From: Clinical relevance of systematic phenotyping and exome sequencing in patients with short stature
Type | Symptom | Genes a |
|---|---|---|
Preventive measures | Osteoarthritis | ACAN, CUL7, MATN3 |
Hearing loss | COL2A1 | |
Orthopedic symptoms | COL2A1, FGFR3, IHH, SLC26A2, HDAC6, FLNB | |
Developmental issues | KDM6A, ANKRD11, PDE4D, CASK, FGD1, PTPN11, NF1 | |
Bleeding diathesis | PTPN11 | |
Neoplasia | TRIM37, PTPN11, NF1 | |
Symptomatic treatment | Hearing loss | COL2A1, FLNB |
Multiple malformations | KAT6B, KRAS, MAP2K1, PTPN11 | |
Chronic kidney disease | IFT140, CLCN5 | |
Targeted treatment | Growth hormone signaling pathway defects | GHSR, IGF1R, PTPN11 |
Severe hypertension | PDE3A |
