Summary of family MHSF-066, clinical phenotype and associated mutations
| Patient | Age/ sex | Diagnosis | Mutation/ predicted effect | Skin | Thyroid | Breast | CNS | GI | Other |
|---|---|---|---|---|---|---|---|---|---|
| MHSF066-1 | 31/F | CS | 1003 C→T R335X | Trichilemmomas Oral papillomas Acral keratoses | Follicular carcinoma (10) Metastasis (lung) (12) | Ductal carcinoma (21) | Macrocephaly Multiple sclerosis (26) | — | Osteosarcoma (12) Lipoma (12) |
| MHSF066-2 | 54/F | CS | 1003 C→T R335X | Trichilemmomas Oral papillomas Acral keratoses | Hashimoto’s thyroiditis (42) | Ductal carcinoma (48) | Macrocephaly Slurred speech | — | — |
| MHSF066-3 | 9/M | BZS | 1003 C→T R335X | Lentigines of the penis | — | — | Macrocephaly Developmental delay Dysarthria Hypotonia | ||
| MHSF066-4 | 6/M | BZS | 1003 C→T R335X | Lentigines of the penis | — | — | Macrocephaly Developmental delay Dysarthria Hypotonia |
(): age at diagnosis.