Table 2. Summary of FOXC1 deletions and phenotypes identified in this study.
| Case | Mutation/deletion | Predicted effect | Eye | Dental | Umbilicus | Heart | Hearing | Other | Age (years) | Family hx |
|---|---|---|---|---|---|---|---|---|---|---|
| Intragenic FOXC1 mutations | ||||||||||
| None identified | ||||||||||
| FOXC1 deletions | ||||||||||
| 25 | 6p25.3–p25.2 deletion (0.98 Mb) | Deletion of FOXC1 GMDS | ARS, CGL, entropion with trichiasis | − | − | Atrial septal defect | Hearing loss | Large, low-set ears | 18 months | No |
| 26A | 6p25 deletion (1.10 Mb) | Deletion of FOXC1 GMDS, LOC340156 (partial) | ARS, GL | − | − | Heart murmur | Hearing loss | Small mouth | 30 | Yes |
| 26B | 6p25 deletion (extent ND) | Deletion of FOXC1 Other genes ND | ARS, CGL | Unk | Mild RU | − (echo WNL) | − | <1 | Child of 26A | |
| 27 | 6p25.3–p25.2 deletion (1.5 Mb) | Deletion of FOXC1 GMDS, C6orf195, MYLK4, WRNIp1, SERPINB1, MIR4645, MGC39372, SERPINB9, SERPINB6, NQO2 | ARS, CGL, severe IH/ aniridia, | Unk | − | − | − | Maxillary hypoplasia, broad nasal bridge | <1 | Yes |
| 28 | 6p25.3–p25.3 deletion (1.3 Mb) 6p21.33–p21.33 duplication (0.52 Mb) | Deletion of FOXC1 FOXQ1, FOXF2, GMDS (partial) Duplication of HLA-A, HCG9, ZNRD1, PPP1R11, RNF39, TRIM31, TRIM40, TRIM10, TRIM15, TRIM26, FLJ45422, TRIM39, RPP21 | ARS, CA | − | − | − | hearing loss | De Hauwere syndrome: dislocated hips, flattened femoral heads, dural ectasia/meningoceles, short stature, hydrocephalus, joint laxity/pain, skeletal anomalies, hypertelorism hyperthyroidisma | 49 | No |
Abbreviations: ARS, Axenfeld-Rieger syndrome (any combination of posterior embryotoxon, irido-corneal adhesions, iris hypoplasia, and pupillary anomalies); CA, cataract; CGL, congenital glaucoma; GL, glaucoma; IH, iris hypoplasia; RU, redundant umbilical skin; Unk, unknown; −, no anomaly noted.