Table 1.
Clinical and biometric features for the Iranian family (Family A) and the Kurdish family (Family B)
| Family A: IV:1 | Family A: IV:4 | Family A: IV:6 | Family A: IV:8 | Family B: III:1 | Family B: III:3 | Family B: III:4 | |
|---|---|---|---|---|---|---|---|
| HNMT mutation (NM_006895.2) | c.179G>A (p.Gly60Asp) | c.179G>A (p.Gly60Asp) | c.179G>A (p.Gly60Asp) | c.179G>A (p.Gly60Asp) | c.632T>C (p.Leu208Pro) | c.632T>C (p.Leu208Pro) | c.632T>C (p.Leu208Pro) |
| Gender | F | M | F | M | M | F | M |
| Parental consanguinity | First cousins | First cousins | First cousins | First cousins | First cousins | First cousins | First cousins |
| Ethnic origin | Turkish | Turkish | Turkish | Turkish | Kurdish | Kurdish | Kurdish |
| Age at examination (years) | 35 | 33 | 31 | 27 | 18 | 15 | 13 |
| Height (cm) (SD) | 151 (−2.5 SD) | 172 (−0.8 SD) | 153 (−2.2 SD) | 170 (−1.2 SD) | 165 (−1.8 SD) | 151 (−2 SD) | 138 (−2.1 SD) |
| Weight (kg) (SD) | 65 (+1.5 SD) | 71 (+0.7 SD) | 63 (+1.2 SD) | 69 (+0.6 SD) | 56 (+0.2 SD) | 44 (+0.2 SD) | 40 (+0.8 SD) |
| Head circumference (cm) (SD) | 55 (Mean) | 54.5 (−1.46 SD) | 55 (Mean) | 54 (−1.46 SD) | 54 (−1.5 SD) | 52 (−1.7 SD) | 52 (−1.7 SD) |
| ID | IQ: 28 (severe) | IQ: 49 (moderate) | IQ: 25 (severe) | IQ: 54 (mild) | IQ: 20–34 (severe) | IQ: 20–34 (severe) | IQ: 20-34 (severe) |
Height and head circumference are given in cm; weight in kg. Standard deviation (SD) from mean values is given in parentheses.