Table 1.
Genotypes of the 29 PMM2-CDG patients, first signs at onset and age at the molecular diagnosis
| Patient (current age, gender) | Genotype | First signs (age) | Age at molecular diagnosis |
|---|---|---|---|
| 1*(24, F) | F157S/C241S | Ataxia and strabismus (first year) | 9 |
| 2*(26, M) | F157S/C241S | Psychomotor delay (6 m) | 11 |
| 3* (15, F) | F157S/C241S | Psychomotor delay (first year) | First year |
| 4 (20, M) | R141H/C241S | Strabismus, hypotonia (at birth) | 2,5 |
| 5 (31, M) | R141H/C241S | Gait ataxia (18 y) | 24 |
| 6%(46, M) | R141H/C9Y | Hypotonia (at birth) | 33 |
| 7%(49, M) | R141H/C9Y | Diarrhea, hypotonia (at birth) | 36 |
| 8 (20, F) | R141H/C9Y | NA | 4 |
| 9 (25 death, F) | R141H/F119L | NA | 21 |
| 10 (24, M) | R141H/F119L | Infections, thrombocytopenia, liver failure, syncopes (3 w) | 13 |
| 11 (19, F) | R141H/I153T | NA | 2 |
| 12 (22, F) | R141H/I153T | NA (8 m) | 12 |
| 13 (27, M) | R141H/P113L | Digestive troubles (at birth) | 14 |
| 14 (34, F) | R141H/P113L | Vomiting (at birth) | 25 |
| 15 (19, F) | R141H/G214S | NA (7 m) | 10 |
| 16 (44, F) | R141H/Q177H | Hypotonia (at birth) | 40 |
| 17 (22, M) | R141H/V129M | Hypotonia, liver failure (at birth) | 2 months |
| 18 (21, M) | R141H/E139K | NA (first months) | 7 |
| 19 (31, F) | R141H/T226S | NA | 16 |
| 20 (17, F) | R141H/C103F | NA | 14 |
| 21 (32, F) | R141H/ I132T | Psychomotor delay (first year) | 16 |
| 22 (32, M) | I132T/P20S + IVS1 + 1G > T | Diarrhea, feeding difficulties (at birth), generalized edema (3 w) | 22 |
| 23 (28, M) | R141H/A108V | Psychomotor delay (6 m) | 15 |
| 24 (25, F) | A108V/R123Q | Strabismus, hypotonia (at birth) | 22 |
| 25$ (25, M) | T18S/IVS3 + 2 T > C | NA | 13 |
| 26$ (25, M) | T18S/IVS3 + 2 T > C | NA | 8 |
| 27 (24, F) | G255A/E139K | Feeding difficulties (3 m) | 13 |
| 28 (39, F) | T237R/R162W | Strabismus (2 m) | 27 |
| 29 (35, F) | R162W/IVS3 + 1G > A | Psychomotor delay (first year) | 22 |
NA: not available; *$%: siblings; m: month; y: year; w: week.