Table 3 GLDC deletions identified in patients with NKH.
| Deletion | Missing exons | Number of alleles | Family | Ethnicity | Other allele | Comment |
|---|---|---|---|---|---|---|
| First cohort (AMT‐mutation negative, 45 families) | ||||||
| 1 | Exons 1–2 | 2 | P14 | Caucasian | c.2714T→G (p.V905G) | |
| P36 | Caucasian | Deletion (exons 1–17) | ||||
| 2 | Exons 1–3 | 3 | P5 | Oriental | Deletion (exons 1–3) | Homzygote, consanguinity (−) |
| P70 | Oriental | Unidentified | ||||
| 3 | Exons 1–17 | 2 | P36 | Caucasian | Deletion (exons 1–2) | |
| P40 | Caucasian | Unidentified | ||||
| 4 | Exons 1–25 | 1 | P32 | Caucasian | c.1786C→T (p.R596X) | |
| 5 | Exons 3–4 | 1 | P69 | Oriental | c.2311G.A (p.G771R) | |
| 6 | Exons 3–8 | 1 | P120 | Oriental | c.2574T→G (p.Y858X) | |
| 7 | Exons 3–9 | 1 | P47 | Oriental | c.2519T→A (p.M840K) | |
| 8 | Exons 3–22 | 1 | P48 | Caucasian | c.2665+1G→C | |
| 9 | Exons 12–15 | 4 | P7 | Oriental | c.2266_2268del TTC | |
| P8 | Oriental | c.2080G→C (p.A694P) | ||||
| P22 | Oriental | Unidentified | ||||
| P74 | Oriental | c.2311G→A (p.G771R) | ||||
| Second cohort (not prescreened for AMT mutation, 20 families) | ||||||
| 1 | Exon 1 | 1 | B3 | Caucasian | Unidentified | |
| 2 | Exons 1–2 | 2 | B8 | Caucasian | c.1545G→C (p.R515S) | |
| B13 | Caucasian | c.1545G→C (p.R515S) | ||||
| 3 | Exons 1–16 | 2 | B10 | Pakistani | Deletion (exons 1–16) | Homozygote, consanguinity (+) |
| 4 | Exons 3–21 | 1 | B6 | Caucasian | Unidentified | |
| 5 | Exon 9 | 2 | B7 | Caucasian | Deletion (exon 9) | Homozygote, consanguinity (+) |
| 6 | Exons 5–8 | 1 | B18 | Caucasian | c.1545G→C (p.R515S) | |