Table 1.
Clinical Features of 5 Individuals with ECCL in Whom an FGFR1 Mutation Was Detected
| LR12-068 | LR13-278 | IN_0039 | NIH_183 | LR14-261 | |
|---|---|---|---|---|---|
| FGFR1 mutation | c.1966A>G (p.Lys656Glu) | c.1638C>A (p.Asn546Lys) | c.1638C>A (p.Asn546Lys) | c.1966A>G (p.Lys656Glu) | c.1638C>A (p.Asn546Lys) |
| Mutation discovery method | ES | ES | ES | ES | smMIP |
| Age at last assessment | 7 y | 15 y | 17 m | 2 y 8m | 5 y |
| Gender | M | M | M | M | F |
| Neurocognitive function | normal | delayed, in special skills class | normal | normal | normal |
| Seizures | no | yes | no | no | no |
| Intracranial lipomas | yes | yes | yes | no | yes |
| Spinal lipomas | no | not assessed | yes (T2/3 and L5/S1) | no | no |
| CNS Other | Pilomyxoid/ pilocytic astrocytoma WHO I |
Tectal tumor, left temporal cortical dysplasia | no | Pilocytic/ pilomyxoid astrocytoma WHO II |
no |
| Nevus psiloliparus | yes | yes | yes | yes | yes |
| Alopecia | yes | yes | yes | yes (right parietal) | yes |
| Subcutaneous lipoma | yes (fronto-temporal) | yes | yes (fronto-temporal) | yes (parietal) | yes |
| Focal scalp aplasia | yes | yes | yes | yes | no |
| Skin tags | yes (eyelid) | yes | yes | yes (right eyelid, anterior to right ear) | yes |
| Choristoma | yes (bilateral) | yes | yes (right) | no | yes |
| Coloboma | no | yes (left upper eyelid) | yes (left upper eyelid, iris and bilateral retinal) | no (but segmental iris heterochromia present) | no |
| Prior Publication | no | yes59 | no | yes8 | yes60 |
Abbreviations are as follows: ES (exome sequencing) and mMIP (single molecule molecular inversion probes).