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Table 2 Genotype/Phenotype correlation for patients (n = 39) with available data

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
  1. Patients 3, 25 and 26 were transplanted before symptoms. Variants are reported using Human Genome Variation Society (HGVS) nomenclature. Reference sequences NP_000144.2 (Protein) and NM_000153.3 (cDNA nucleotide). The most common infantile-onset allele, g.30Kbdel (c.1161 + 6555_*9573del), was always detected in ‘cis’ with the pseudodeficiency variant p.Arg184Cys (c.550C > T). #variants detected in ‘cis’ with the pseudodeficieny alleles p.Ile562Thr (c.1685 T > C)#1 or p.Asp248Asn (c.742G > A)#2