Table 1 Clinical features of individuals of participating families ZFD-01 and ZFD-02
From: RAB33B and PCNT variants in two Pakistani families with skeletal dysplasia and short stature
Family | ID | Variant | Zygosity | Sex | Age (years) | Height (cm) | Height Standard Deviation | Head Circumfer-ence (cm) | Head circumfer-ence Standard deviation | Genu valgum |
|---|---|---|---|---|---|---|---|---|---|---|
ZFD-01 | III:1 | PCNT c.6176_6189del GTCAGCTGCCGAAG | Heterozygous | F | 45 | 155 | -1.2 | NA | NA | - |
III:2 | Heterozygous | M | 54 | 161 | -2.1 | NA | NA | - | ||
IV:1 | Homozygous | M | 27 | 117 | -8.2 | 45 | -6.8 | - | ||
IV:3 | Homozygous | M | 20 | 123 | -7.3 | 47 | -5.4 | - | ||
IV:5 | Wild type | F | 12 | 155 | 0.6 | 54 | + 0.7 | - | ||
ZFD-02 | III:2 | RAB33B c.174delC | Heterozygous | F | 49 | 150 | -2.0 | NA | NA | - |
III:3 | Heterozygous | M | 54 | 160 | -0.4 | NA | NA | - | ||
III:4 | Heterozygous | F | 45 | 150 | -1.9 | NA | NA | - | ||
IV:1 | Heterozygous | M | 35 | 159 | -2.4 | NA | NA | - | ||
IV:2 | Homozygous | F | 33 | 112 | -7.2 | 49 | -5.0 | + | ||
IV:3 | Homozygous | F | 29 | 117 | -6.5 | 53 | -1.2 | + | ||
IV:8 | Homozygous | F | 22 | 122 | -5.7 | 51 | -3.1 | - | ||
IV:10 | Heterozygous | M | 7 | 122 | 0 | 54 | + 1.4 | - | ||
IV:11 | Homozygous | M | 10 | 104 | -4.9 | 48 | -3.7 | + | ||
IV:12 | Wild type | F | 13 | 143.5 | -1.8 | 58 | + 3.4 | - |