Table 2.
Cohort summary including phenotypes and additional molecular analysis. + symbol indicates that the clinical feature was observed. NA = not available.
| Clinical Features | Additional Molecular Analysis | ||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Family ID | Dystopia Canthorum | Eye Pigmentation Abnormality | Hair Pigmentation Abnormality | Skin Pigmentation Abnormality | Hearing Impairment | WS Type | Proband | Mutation Segregation | NGS Panel | Exome Trio | MLPA (PAX3, MITF, SOX10) | Array-CGH | Comments |
| LGH1 | + | Blue eyes | − | − | + | 1 > BWS2 | Sporadic | de novo | − | + | + | − | |
| LGH2 | − | Bright blue iridis | − | − | + | 2 | Sporadic | Unsolved case | + | + | + | + | |
| LGH3 | − | Bright blue iridis | + | − | + | 2 | Sporadic | Inherited unaffected mother | − | − | + | − | |
| LGH4 | − | Heterochromia iridis | + | + | + | 2 | Sporadic | Unsolved case | + | + | + | − | |
| LGH5 | − | Heterochromia iridis | + | − | + | 2 | Sporadic | NA | − | − | + | − | |
| LGH6 | + | Bilateral heterochromia iridis | + | − | + | 1 | Sporadic | NA | − | − | + | + | Ala nasi hipoplasia |
| LGH7 | − | Bright blue iridis with brown spotting | + | − | + | 2 | Sporadic | Unsolved case | + | + | + | + | |
| LGH8 | − | − | + | − | + | 2 | Sporadic | Unsolved case | − | − | + | − | Moderate mixed (R) and conductive (L) HL and not included for the NGS panel |
| LGH9 | − | Heterochromia iridis and bright blue iridis | + | + | + | 2 | Sporadic | NA | − | − | + | + | Deletion suspicion by WES and confirmed with array-CGH |
| LGH10 | − | Bright blue iridis | − | − | + | 2 | Sporadic | NA | − | − | + | − | |
| LGH11 | Apparent | Heterochromia iridis and bright blue iridis | − | − | + | 1 > 2 | Sporadic | Inherited from unaffected mother | + | + | − | + | |
| LGH12 | Apparent | Heterochromia iridis and bright blue iridis | − | − | + | 1 > 2 | Sporadic | NA | − | − | − | − | |
| LGH13 | + | Heterochromia iridis | + | − | + | 1 | Sporadic | de novo | − | + | − | − | Ala nasi hipoplasia |
| LGH14 | − | Heterochromia iridis | − | + | + | 2 | Sporadic | de novo | − | + | + | − | Nasal root hyperplasia. Normal MRI, CT-scan. Patient W14 [22] |
| LGH15 | − | Bright blue iridis | − | − | + | 2 | Familial | + | − | − | + | − | |
| LGH16 | − | Heterochromia iridis | − | − | + | 2 | Familial | + | − | − | + | + | |
| LGH17 | − | Heterochromia iridis | − | − | + | 2 | Familial | Inherited from unaffected father | + | − | + | + | |
| LGH18 | − | Bright blue iridis | + | − | + | 2 | Familial | + | − | − | + | − | |
| LGH19 | − | − | + | + | + | 2 | Familial | Unsolved case | + | − | + | + | |
| LGH20 | − | Bright blue iridis | + | − | + | 2 | Familial | Unsolved case | + | − | + | + | |
| LGH21 | + | Bright blue iridis | + | − | + | 1 | Familial | + | − | − | − | − | Ala nasi hipoplasia |
| LGH22 | + | Heterochromia iridis and bright blue iridis | + | − | + | 1 | Familial | NA | − | − | + | − | Ala nasi hipoplasia |
| LGH23 | + | Heterochromia iridis and bright blue iridis | + | + | 1 | Familial | NA | − | − | + | − | Ala nasi hipoplasia | |
| LGH24 | − | Heterochromia iridis and bright blue iridis | − | − | + | 2 | Familial | + | + | − | − | + | Normal MRI and CT. Patient W12 [22] |
| LGH25 | − | Bright blue iridis | − | − | + | 2 | Familial | + | + | − | − | + | Normal MRI and CT. Patient W13 [22] |
| LGH26 | − | Heterochromia iridis and bright blue iridis | − | − | + | 2 | Familial | + | − | − | + | − | |