Table 1 Families with giant axonal neuropathy and Gigaxonin mutations identified.
| Family No | Age of onset | Diagnosis | Affected | Origin | Hair | Nerve biopsy |
|---|---|---|---|---|---|---|
| 1 | 3 y | GAN | 1 | England | Kinky | GAN (see fig 1) |
| 2 | II‐1: 4 y | GAN | 5 | Pakistan | Kinky | GAN |
| II‐5: 21 mo | ||||||
| 3 | II‐1: 5 y | GAN | 2, 2 possibly affected | Pakistan | Kinky | GAN |
| II‐2: 5 y | ||||||
| 4 | <2 y | GAN | 1 | Scotland | Kinky | GAN |
| 5 | 25 mo | GAN | 1 | Canada | Kinky | GAN |
| Family No | Exon/intron | Nucleotide change | Amino acid | Domain | Consanguinity | Mutation type |
|---|---|---|---|---|---|---|
| 1 (proband and mother) | Exon 5 | c.944 CCG to CTG | Pro 315 Leu | Kelch | No | Compound heterozygous |
| 1 (proband and father) | Exon 10 | 1553/1554 Del TT | Phe 518Fs | Kelch | No | Compound heterozygous |
| Probable NMD | ||||||
| 2 | Exon 1 | c.151 GCC to CCC | Ala 51 Pro | BTB | Yes | Homozygous |
| 3 | Exon 10 | c.1505 TGG to TAG | Trp 502 Stop | Kelch | Yes | Homozygous |
| Probable NMD | ||||||
| 4 | Exon 2 | c.213 TAT to TAA | Tyr 71 Stop | BTB | No | Homozygous |
| Probable NMD | ||||||
| 5 | No mutation identified in the coding region or flanking introns | No |
c., cDNA nucleotide numbering; GAN, Giant axonal neuropathy; Fs, frameshift; NMD, non‐sense mediated decay.