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Table 1 Genotypes of the 29 PMM2-CDG patients, first signs at onset and age at the molecular diagnosis

From: 29 French adult patients with PMM2-congenital disorder of glycosylation: outcome of the classical pediatric phenotype and depiction of a late-onset phenotype

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
  1. NA: not available; *$%: siblings; m: month; y: year; w: week.