From: Novel genotypes and phenotypes among Chinese patients with Floating-Harbor syndrome
 | Patient 3 | Patient 6 | Patient 7 | Patient 8 | Patient 9 | Patient 10 | Patient 11 | Patient 12 |
---|---|---|---|---|---|---|---|---|
Gender | Male | Female | Male | Female | Male | Male | Female | Female |
SRCAP Mutation | c.7330C > T /p.Arg2444Ter | c.7330C > T /p.Arg2444Ter | c.7245_7246delAT/p.Ser2416ArgfsTer26 | c.7330C > T /p.Arg2444Ter | c.7330C > T /p.Arg2444Ter | c.7303C > T /p.Arg2435Ter | c.7303C > T /p.Arg2435Ter | c.7466C > G /p.Ser2489Ter |
GHD | Yes | No | ND | No | No | No | No | No |
Initial age of treatment | 5Y2M | 2Y | 4Y10M | 5Y | 6Y6M | 5Y2M | 1Y5M | 2Y3 M |
Height at the initiation of treatment (SDS) | 92.5 cm (−4.52) | 74.7 cm (−3.62) | 92.3 cm (−4.12) | 93.8 cm (−3.84) | 95 cm (−5.30) | 92.7 cm(−4.47) | 68.5 cm (−4.17) | 75.0 cm (− 4.17) |
HV before treatment (cm/year) | 4.5 | NA | NA | ~ 3.1 | ~ 3 | 4.5 | NA | NA |
Dosage & Usage | 0.15 IU/kg.p.d (short-acting) | 1.2 IU/kg.p.d (short-acting) | 1.18 ~ 1.4 IU/kg.p.w (long-acting) | 0.17 mg/kg.p.w (long-acting) | 0.2 IU/kg.p.d (short-acting) | 0.14~0.17 IU/kg.p.d (short-acting) | 0.13~0.2 IU/kg.p.d (short-acting) | 0.125 IU/kg.p.d (short-acting) |
Duration of treatment | 1Y | 1 M | 4Y + 2 M | 1Y + 7 M | 4Y + 3 M | 4Y + 3 M | 2Y + 2 M | 3 M |
Height at one year treatment(SDS) | 98 cm (−4.40) | na | 99.5 cm (−3.76) | 100.5 cm (− 3.50) | 101.9 cm (− 4.78) | 98 cm (− 4.40) | 87 cm (−2.77)a | na |
Height at last examination(SDS) | 98 cm (− 4.40) | na | 120.5 cm (−2.56) | 103.4 cm (− 3.49) | 119 cm (− 3.86) | 118 cm (− 3.31) | 88.6 cm (− 2.96) | 77.9 cm (− 3.81) |
First-year delta height SDS | 0.12 | na | 0.36 | 0.34 | 0.52 | 0.07 | > 0.7 | na |
Total height SDS | 0.12 | na | 1.56 | 0.35 | 1.44 | 1.16 | 1.21 | na |
Annualized height SDS | 0.12 | na | 0.37 | 0.22 | 0.34 | 0.27 | 0.56 | na |
HV during the first year of treatment (cm/year) | 5.5 | na | 6.64 | 6.7 | 6.9 | 5.3 | 10.1 | na |
HV increase during the first-year (cm/year) | 1 | na | na | ~ 3.6 | ~ 3.9 | 0.8 | na | na |
GH Treatment response | Poor | ND | Good | Modest | Good | Poor | Good | ND |