From: Early progression of Krabbe disease in patients with symptom onset between 0 and 5 months
Patient | Allele 1 | Allele 2 | Age at Onset (Months) | Earliest Clinical Symptoms | ||
---|---|---|---|---|---|---|
DNA | Protein | DNA | Protein | |||
1 | c.1586C>T | p.Thr529Met#2 | c.1586C>T | p.Thr529Met#2 | 4 | Feeding difficulty; Irritability |
2 | g.30Kbdel | c.1158del10 | p.Met387Phefs*? | 0 | Irritability | |
3 | g.30Kbdel | c.622-1G>T | Missplicing | NA | Asymptomatic | |
4 | c.242_243dupGA | p.Ile82Argfs*? | c.1700A>C | p.Tyr567Ser#1 | 4 | Developmental delay; Spasticity |
5 | c.379 C>T | p.Arg127* | c.864G>A | p. Trp288* | 4 | Spasticity; Feeding difficulty; Irritability |
6 | g.30Kbdel | g.30Kbdel | 3 | Feeding difficulty | ||
7 | g.30Kbdel | c.430delA | p.Ile144Leufs*? | 3 | Spasticity; Feeding difficulty | |
8 | c.628A>T | p.Arg210* | c.1895T>C | p.Leu632Pro#1 | 3.5 | Spasticity; Feeding difficulty; Irritability |
9 | c.884A>T | p.Asn295Ile#1 | c.884A>T | p.Asn295Ile#1 | 1 | Feeding difficulty |
10 | g.30Kbdel | c.544G>A | p.Glu198Lys | 4 | Irritability | |
11 | g.30Kbdel | c.658C>T | p.Arg220*#1 | 1.5 | Feeding difficulty; Irritability; Reflux | |
12 | c.749T>C | p.Ile250Thr | c.1586C>T | p.Thr529Met | 4 | Feeding difficulty; Reflux |
13 | c.1884delA | p.Lys628Asnfs*7#2 | g.5.78 Mb del | 3 | Feeding difficulty; Irritability; Reflux | |
14 | c.155delG | p.Gly52Alafs*? | c.155delG | p.Gly52Alafs*? | 3 | Feeding difficulty; Irritability; Reflux |
15 | g.30Kbdel | c.620delA | p.Lys191fs*? | 2.5 | Feeding difficulty; Developmental delay | |
16 | c.430delA | p.Ile144Leufs*? | c.628A>T | p.Arg210* | 5 | Spasticity; Irritability; Constipation |
17 | g.30Kbdel | c.1657G>A | p.Gly553Arg | 4 | Spasticity; Irritability; Developmental delay | |
18 | g.30Kbdel | g.30Kbdel | 2 | Irritability; Developmental delay; Poor weight gain; Spasms | ||
19 | c.583-6T>A#1 | Missplicing | g.7.4Kbdel#1 | 5 | Feeding difficulty; Developmental delay; Hypotonia | |
20 | c.2056T>C | p.*686Glnext*42#1 | c.430DelA | p.Ile144Leufs*?#1 | 3 | Developmental delay |
21 | c.316G>A | p.Gly106Arg | c.521delA | p.Tyr158Leufs*3 | 4 | Irritability |
22 | c.967G>T | p.Gly323Trp | c.1472delA | p.Lys491Argfs*62 | 4 | Irritability; Reflux |
23 | c.489G>A | p.Trp163*#1 | c.489G>T | p.Trp163Cys#1 | 5 | Spasticity; Irritability; Developmental Delay |
24 | c.387C>G | p.Tyr129* | c.1814dupA | p.Tyr605fs*1 | 5 | Spasticity; Developmental delay |
25 | c.533G>A | p.Trp178*#1 | c.1468T>A | p.Tyr490Asn#1 | NA | Asymptomatic |
26 | g.30Kbdel | c.674C>A | p.Ala225Glu | NA | Asymptomatic | |
27 | g.30Kbdel | g.30Kbdel | 3 | Feeding difficulty; Hypotonia | ||
28 | g.30Kbdel | c.1004A>G | p.Tyr335Cys#1 | 3 | Feeding difficulty; Spasticity | |
29 | g.30Kbdel | c.1004A>G | p.Tyr335Cys#1 | 4 | Spasticity; Irritability; Developmental Delay; Hypotonia | |
30 | g.30Kbdel | c.490C>A | p.Pro164Thr | 5 | Spasticity; Developmental delay | |
31 | g.30Kbdel | g.30Kbdel | 4 | Spasticity; Developmental delay | ||
32 | c.1700A>C | p.Tyr567Ser#1 | c.1158del10 | p.Met387Phefs*? | 2 | Reflux |
33 | g.30Kbdel | c.1543G>A | p.Glu515Lys#1 | 5 | Irritability; Reflux | |
34 | c.764C>A | p.Pro255His#1 | c.1591C>T | p.Arg531Cys#1 | 1 | Spasticity |
35 | g.30Kbdel | c.1004A>G | p.Tyr335Cys#1 | 5 | Feeding difficulty; Spasticity; Developmental delay | |
36 | g.30Kbdel | g.30Kbdel | 5 | Spasticity; Irritability | ||
37 | g.30Kbdel | g.30Kbdel | 5 | Feeding difficulty; Developmental delay | ||
38 | g.30Kbdel | c.1766dupA | p.Tyr605fs*1#1 | 4 | Developmental delay; Hypotonia | |
39 | c.869G>A | p.Arg290His | c.1480T>C | p.Phe494Leu | 4 | Development delay: irritability |