Table 1 Anthropometric and clinical features of the individuals from the two families with mutations in NPPC
From: Mutations in C-natriuretic peptide (NPPC): a novel cause of autosomal dominant short stature
NPPC genotype | Family member | Height in cm (SDS) | Weight in kg (SDS) | Arm span (cm) | Arm span: height | Sitting height (cm) | Sitting height: height | Hand length in cm (SDS) | Other clinical features |
|---|---|---|---|---|---|---|---|---|---|
Family 1: p.Arg117Gly | |||||||||
Heterozygous | Proband (III.1) (13.5 years, Tanner 5) | 144.7 (–2.3) | 54.5 (+0.2) | 142.4 | 0.984 | 79.0 | 0.546 | 16.5 (–3.7) | Small hands and feet, short fourth metacarpal, cubitus and genu valgus, lower-limb hypertrophy, and hypertelorism |
Heterozygous | Mother (II.5) | 148.6 (–2.6) | 64 (+0.8) | 144.4 | 0.971 | 80.0 | 0.539 | 16.0 (–4.5) | Small hands and feet |
Wild type | Father (II.4) | 164.3 (–2.0) | 90 (+1.4) | 172.0 | 1.046 | 87.5 | 0.533 | 19.0 (–1.1) | Hypertelorism, burly aspect |
Wild type | Sister (III.2) (11.5 years, Tanner 3) | 147.0 (–0.4) | 52.5 (+1.0) | 145.5 | 0.990 | 76.3 | 0.524 | 15.5 (–1.4) | |
Wild type | Maternal grandfather (I.3) | 146.5a (–4.8) | 58 (–1.5) | 156.0 | 1.065 | 81.0 | 0.553 | 15.0b (–4.2) | Arthritis |
Heterozygous | Maternal grandmother (I.4) | 138.5a (–4.3) | 57 (–0.1) | 144.0 | 1.040 | 71.0 | 0.513 | 15.5 (–5.2) | Small hands |
Heterozygous | Maternal Aunt (II.6) | 146.5 (–2.9) | 50 (–0.9) | 149.0 | 1.017 | 79.0 | 0.539 | 15.0 (–6.0) | Small hands |
Family 2: p.Gly119Cys | |||||||||
Wild type | Proband (II.2) (17.2 years, Tanner 4) | 160.5c (–2.1) | 47.5 (–2.9) | 161.5 | 1.022 | 78.5 | 0.496 | 18.4 (–1.3) | Delayed puberty |
Heterozygous | Sister (II.1) | 145.0 (–2.9) | 40 (3.0) | 145.8 | 1.006 | 75.0 | 0.517 | 17.2 (–2.1) | Small hands |
Heterozygous | Father (I.1) | 158.8 (–2.4) | 65.9 (–0.4) | 153.3 | 0.965 | 81.0 | 0.510 | 17,7 (–2.1) | Small hands |
Wild type | Mother (I.2) | 157.5 (–0.8) | 72 (+1.1) | 156.0 | 0.990 | 79 | 0.502 | 17.9 (–1.6) | |
