Table 1 Patients clinical features and SPRED1 analysis results
| Subject | SPRED1 analysis | Sex | Age bracket (years) | weight (kg) | Length (cm) | Head circumference | CAL spots | Axillary freckling | Inguinal freckling | Neurofibromas, Lisch nodules, optic glioma | Other | ||
| (cm) | (centile) | <1.5 cm | >1.5 cm | ||||||||||
| Family 1 | |||||||||||||
| I:2 | C.190C>T | F | 70–74 | 78 | 147 | 57 | 50–95 | 5 | 1 | Unilateral | – | – | One lipoma |
| II:1 | WT | F | 40–44 | U | U | U | – | – | – | – | – | ||
| II:2 | C.190C>T | M | 40–44 | 92 | 172 | 58.5 | 50–95 | 3 | 3 | – | Unilateral | – | Cephalalgia; learning disability |
| II:4 | C.190C>T | F | 40–44 | U | 163 | 58 | >95 | 2 | 2 | Bilateral | – | – | One lipoma; Macrocephaly |
| III:2 | C.190C>T | M | 10–14 | 64 | 169 | 56.5 | 50–95 | 8 | 3 | Bilateral | Bilateral | – | Cephalalgia |
| III:3 | C.190C>T | M | 5–9 | 22 | 115 | 52 | 50 | 5 | 4 | – | Unilateral | – | |
| Family 2 | |||||||||||||
| I:1 | WT | F | 60–64 | U | U | U | – | – | – | – | – | ||
| I:2 | c.637C>T | M | 55–59 | 80 | 168 | 57 | 50–95 | 2 | 5 | Unilateral | Unilateral | – | |
| II:2 | c.637C>T | M | 35–39 | 76 | 170 | 54 | 5–50 | 5 | 4 | – | – | – | |
| II:4 | c.637C>T | M | 30–34 | 78 | 178 | U | 10 | 4 | Bilateral | Bilateral | – | ||
| II:6 | c.637C>T | M | 30–34 | 68 | 172 | 56 | 5–50 | 5 | 4 | – | – | – | |
| II:7 | c.637C>T | F | 25–29 | 55 | 165 | 55 | 5–50 | 11 | 10 | Bilateral | Bilateral | – | |
| II:8 | c.637C>T | M | 10–14 | 31 | 150 | 52 | 5–50 | 7 | 7 | Unilateral | Bilateral | – | Epilepsy |
| III:1 | c.637C>T | M | 5–9 | 19 | U | 52 | 5–50 | 5 | 4 | Unilateral | Unilateral | – | Learning disability |
| Family 3 | |||||||||||||
| I:1 | WT | M | 40–44 | 90 | 170 | 58 | 50–95 | – | – | – | – | – | Body diffuse freckling |
| I:2 | c.2T>C | F | 40–44 | 67 | 144 | 53 | 5–50 | 4 | 5 | Unilateral | – | – | Cephalalgia |
| II:3 | c.2T>C | F | 10–14 | 42 | 146 | 52 | 5–50 | 10 | 10 | Bilateral | Bilateral | – | Learning disability: dyslexia, dysgraphia, attention deficit; cephalalgia |
| II:4 | c.2T>C | M | 5–9 | 23 | 124 | 52 | 5–50 | 4 | 3 | – | – | – | Diffuse freckling on face and back; weak speech and language delay |
| Family 4 | |||||||||||||
| I:1 | c.46C>T | M | 35–39 | 65 | 176 | 55 | 5–50 | – | 2 | – | – | – | |
| II:2 | c.46C>T | M | 0–4 | 14 | 106 | 53 | 50–95 | 13 | – | – | – | – | Monoblastic acute leukaemia; learning disability |
| Family 5 | |||||||||||||
| III:7 | c.1048_1060del | F | 35–39 | 59 | 165 | U | U | 15 | 19 | Diffuse freckling | – | ||
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CAL, café-au-lait; F, female; M, male; U, unknown; WT, wild type for SPRED1 mutational analysis; –, negative.
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No SPRED1 deletion was found using real-time PCR based gene dosage in any of the patients tested.</p>
