Table 3 Phenotypic characteristics and response to hGH therapy for patients with IGF-1R mutations

R108Q K115N

Birth weight −3.5 SD score; delayed motor skill development; psychiatric anomalies; normal IGF-1 levels, delayed motor development

+

Abuzzahab, 2003 [23]

R59X

Birth weight −3.5 SD score; birth length −5.8 SD score; microcephaly, mild retardation, and delayed motor and speech development;

+

Abuzzahab, 2003 [23]

R709Q

Birth weight −1.5 SD score; birth length −1.0 SD score; significant mental retardation

N/A

Kawashima, 2005 [25]

E1050K

Birth height −0.3 SD score, birth weight −2.1 SD score; height at 35 years −4.0 SD score; head circumference at 35 years −3.0 SD score; no dysmorphic features; high IGF-1 levels

N/A

Walenkamp, 2006 [26]

R481Q

Height −4.9 SD score, reduced bone age, elevated IGF-1 levels

−

Inagaki, 2007 [27]

G1125A

Birth weight −1.7 SD score; head circumference at birth −3.7 SD score; normal mental development

N/A

Kruis, 2010 [28]

V599E

Birth weight −2.3 SD score; birth head circumference <3rd percentile; high IGF-1 levels; mental retardation

−

Wallborn, 2010 [29]