Genotype and phenotype of the OHSt kindreds
| Pedigree/family code . | Reference . | Sex . | Genotype . | Phenotype . |
|---|---|---|---|---|
| Stockport | ||||
| A-I-1 | 1, 11 | M | Phe65/Phe65 | Unaffected |
| A-I-2 | F | Phe65/Ser65 | OHSt | |
| A-II-1*† | M | Phe65/Ser65 | OHSt | |
| A-II-2 | F | Phe65/Ser65 | OHSt | |
| A-III-1 | F | Not tested | OHSt | |
| A-III-2 | M | Phe65/Phe65 | Unaffected | |
| Albuquerque | ||||
| C-I-1 | 12 | M | Not tested | — |
| C-I-2*† | F | Phe65/Ser65 | OHSt | |
| C-II-1 | M | Phe65/Ser65 | OHSt | |
| C-II-2 | F | Phe65/Ser65 | OHSt | |
| Brighton | ||||
| B-II-1† | 11, 13 | F | Phe65/Ser65 | OHSt |
| B-III-1 | M | Phe65/Phe65 | Unaffected | |
| Toulouse | ||||
| B-I-1 | 12 | M | Phe65/Phe65 | Unaffected |
| B-I-2 | F | Phe65/Phe65 | Unaffected | |
| B-II-1 | M | Phe65/Ser65 | OHSt | |
| Grenoble | ||||
| A-I-1 | 14 | M | Deceased | OHSt |
| A-I-2 | F | Not tested | Unaffected | |
| A-II-1 | M | Phe65/Ser65 | OHSt | |
| A-III-1 | F | Phe65/Ser65 | OHSt | |
| Nancy | ||||
| — | — | M | Phe65/Ser65 | OHSt |
| Harrow | ||||
| A-II-3*† | 12 | F | Ile61/Arg61 | OHSt |
| Pedigree/family code . | Reference . | Sex . | Genotype . | Phenotype . |
|---|---|---|---|---|
| Stockport | ||||
| A-I-1 | 1, 11 | M | Phe65/Phe65 | Unaffected |
| A-I-2 | F | Phe65/Ser65 | OHSt | |
| A-II-1*† | M | Phe65/Ser65 | OHSt | |
| A-II-2 | F | Phe65/Ser65 | OHSt | |
| A-III-1 | F | Not tested | OHSt | |
| A-III-2 | M | Phe65/Phe65 | Unaffected | |
| Albuquerque | ||||
| C-I-1 | 12 | M | Not tested | — |
| C-I-2*† | F | Phe65/Ser65 | OHSt | |
| C-II-1 | M | Phe65/Ser65 | OHSt | |
| C-II-2 | F | Phe65/Ser65 | OHSt | |
| Brighton | ||||
| B-II-1† | 11, 13 | F | Phe65/Ser65 | OHSt |
| B-III-1 | M | Phe65/Phe65 | Unaffected | |
| Toulouse | ||||
| B-I-1 | 12 | M | Phe65/Phe65 | Unaffected |
| B-I-2 | F | Phe65/Phe65 | Unaffected | |
| B-II-1 | M | Phe65/Ser65 | OHSt | |
| Grenoble | ||||
| A-I-1 | 14 | M | Deceased | OHSt |
| A-I-2 | F | Not tested | Unaffected | |
| A-II-1 | M | Phe65/Ser65 | OHSt | |
| A-III-1 | F | Phe65/Ser65 | OHSt | |
| Nancy | ||||
| — | — | M | Phe65/Ser65 | OHSt |
| Harrow | ||||
| A-II-3*† | 12 | F | Ile61/Arg61 | OHSt |
RHAG analyzed by SSCP (OHSt samples from Montpellier12 and San Francisco12 were also analyzed but no mutations found. OHSt in these 2 cases is part of a more complex picture, including neurologic symptoms, and thus has a different genetic origin; OMIM 608885; http://www.ncbi.nlm.nih.gov).
All 10 exons of RHAG DNA were sequenced.