Table 1.
Genotype and phenotype summary of all reported B3GALTL-positive Peters plus syndrome cases.
| Reference # |
Race (Sex) |
Allelesa | #b | Eye | Short Stature/ IUGR |
Limb | DD | CL/P | CHD | UT | GT | Other systems |
|||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Peters | ASD | Other | BD | Other | |||||||||||
| This paper (Patient 1) |
U (M) |
c.660+1G>A; Deletion |
1 | + | + | − | + | NR | + | U | − | + | − | − | EA, FD |
| This paper (Patient 2) |
U (M) |
c.660+1G>A p.(Gly57Argfs*11) |
1 | + | + | NR | NR | NR | NR | NR | NR | NR | NR | NR | NR |
| This paper (Patient 3) |
U (M) |
c.660+1G>A; c.660+1G>A |
1 | + | + | + | + | NR | + | + | + | − | − | − | NR |
| This paper (Patient 4) |
C (M) |
c.459+1G>A; c.660+1G>A |
1 | + | + | − | + | + | − | + | − | + | − | + | CNS,EA FD,GI |
| This paper (Patient 5) |
C (F) |
c.660+1G>A; c.1065−1G>A |
1 | + | + | − | + | + | − | + | − | + | + | + | CNS,EA FD, GI, PD, SD |
| This paper (Patient 6) |
H/C (F) |
c.660+1G>A; p.(Arg412*) |
1 | + | + | + | + | + | + | + | − | + | + | − | CNS,EA FD, SD |
| This paper (Patient 7) |
A (F) |
c.347+5G>T; p.(Asp349Asn) |
1 | + | + | − | + | + | + | + | + | − | + | − | EA, FD |
| This paper (Patient 8) |
C (M) |
c.660+1G>A; c.660+1G>A |
1 | + | + | + | + | + | + | + | − | + | + | + | CNS,EA FD, GI |
| This paper (Patient 9) |
C (M) |
c.660+1G>A; p.(Gly394Glu) |
1 | + (R) |
+ (R) |
+ | + | + | − | + | − | − | + | − | EA, FD, GI |
| 4 | 15 C 1 A |
c.660+1G>A; c.660+1G>A |
16 (13) |
12/16 | 16/16 | NR | 16/16 | NR | NR | 11/15 | 5/16 | 3/15 | 2/15 | NR | NR |
| 4 | 2 C |
c.660+1G>A; c.347+5G>A |
2 (1) | 2/2 | 2/2 | NR | 2/2 | NR | NR | 2/2 | 1/2 | 0/2 | 0/2 | NR | NR |
| 4 | 2 C |
c.660+1G>A; Deletion |
2 (1) | 2/2 | 2/2 | NR | 2/2 | NR | NR | 2/2 | 2/2 | 2/2 | 0/2 | NR | NR |
| 6 | 1 C 1 H |
c.660+1G>A; c.660+1G>A |
2 | 2/2 | 2/2 | 1/2 | 2/2 | 2/2 | 2/2 | 2/2 | 2/2 | 1/2 | 0/2 | 1/2 | CNS,EA FD, GI |
| 6 | C |
c.459+1G>A; c.660+1G>A |
1 | + | + | − | + | + | + | + | + | + | − | − | EA, FD |
| 6 | C |
c.660+1G>A; c.230dupT |
1 | + | + | − | + | + | + | U | + | + | + | − | CNS, FD GI, SD |
| 7 | A |
c.660+1G>A; c.660+1G>A |
1 | + | + | − | + | + | + | + | − | + | − | − | EA, FD, SD |
| 8 | C |
c.660+1G>A; Deletion |
1 | + | + | NR | + | NR | + | U | − | + | + | + | CNS,EA FD, SD |
| 9 | U |
c.660+1G>A; p.(Gly393Glu) |
1 | + | + | NR | + | + | NR | + | − | + | − | − | FD |
| 9 | U |
c.459+1G>A; c.459+1G>A |
1 | + | + | NR | + | + | NR | + | − | + | − | − | FD |
| 10 | A |
p.(Tyr366*); p.(Tyr366*) |
1 | + | + | − | + | + | + | + | − | − | + | + | CNS,EA FD |
| 11 | C |
c.1065−1G>A; c.1065−1G>A |
1 | + | + | + | + | + | + | − | − | + | + | − | CNS,EA FD, SD |
| 12 | C |
c.597−2A>G; c.597−2A>G |
2 | 2/2 | 2/2 | 0/2 | 2/2 | 2/2 | 2/2 | 2/2 | 0/2 | 0/2 | 0/2 | 0/2 | CNS, FD |
| 13 | U |
c.660+1G>A; c.660+1G>A |
1 | + | + | − | + | − | − | − | − | − | − | + | CNS, SD |
| 14 | U |
c.660+1G>A; c.660+1G>A |
5 (2) | 1/4 | 4/4 | 2/4 | 5/5 | 3/3 | 0/3 | U | 3/5 | 0/5 | 2/5 | 1/5 | CNS, TAb |
| All patients | 47 | 39/46 85% |
46/46 100% |
8/21 38% |
46/46 100% |
20/21 95% |
15/22 68% |
31/37 84% |
17/46 37% |
18/45 40% |
13/45 31% |
8/26 31% |
|||
Abbreviations: A, Asian; ASD, Anterior segment dysgenesis; BD, brachydactyly; C, Caucasian; CHD, congenital heart defect; CL/P, cleft lip/palate; CNS, structural brain anomaly; DD, developmental delay; EA, Ear anomaly (hearing loss in some); FD, facial dysmorphism; GI, gastrointestinal; GT, genitourinary tract; H, Hispanic; IUGR, intrauterine growth restriction; NR, not reported; PD, premature death; R, right eye only; Tab, terminated pregnancy; U, unknown; UT (urinary tract)
a
novel alleles identified in this study are indicated in bold;
b
when siblings are included, the number of families is indicated in parentheses.