Table 1.
Clinical characteristics of patients with HADH mutations
| Patient | Gender | Age at diagnosis | Birth weight (gestation) | Current age (y) | Current diazoxide dose (mg/kg/d) | Reported Consanguinity | Country of origin | Mutation detection method | Mutation |
|---|---|---|---|---|---|---|---|---|---|
| 1 | Male | 16 wks | 2.9 kg | 3 | 5 | Yes | Turkey | Homozygosity analysis, then sequencing | K136E/K136E |
| (38 wks) | (c.406A>G) | ||||||||
| 2 | Male | 16 wks | 2.8 kg | 8 | 2 | Yes | Turkey | Homozygosity analysis, then sequencing | Q163X/Q163X |
| (40 wks) | (c.487C>T) | ||||||||
| 3 | Male | 2 wks | 4.1 kg | 2 | 10 | Yes | Turkey | Homozygosity analysis, then sequencing | R236X/R236X |
| (40 wks) | (c.706C>T) | ||||||||
| 4 | Male | 5 days | 4.35 kg | 2 | 10 | Yes | Turkey | Sequence analysis | R236X/R236X |
| (40 wks) | (c.706C>T) | ||||||||
| 5 | Female | 1 wk | 4.0 kg | 7 | 2.5 | No | Turkey | Sequence analysis | R236X/R236X |
| (40 wks) | (c.706C>T) | ||||||||
| 6 | Male | 2 days | 3.2 kg | 1 | 11 | Yes | Pakistan | Sequence analysis | R236X/R236X |
| (39 wks) | (c.706C>T) | ||||||||
| 7 | Female | 12 wks | 3.5 kg | 2 | 15 | No | Iran | Sequence analysis | R236X/R236X |
| (40 wks) | (c.706C>T) | ||||||||
| 8 | Female | 1 day | 3.7 kg | 4 | 8 | No | Iran | Sequence analysis | R236X/R236X |
| (40 wks) | (c.706C>T) | ||||||||
| 9 | Male | 26 wks | 2.95 kg | 2 | 10 | No | India | Sequence analysis | K95SfsX3/IVS6 + 39C>G |
| (40 wks) | (c.283_293delinsT/c.709 + 39C>G) | ||||||||
| 10 | Male | 2 days | 4.0 kg | 2 | 10 | No | India | Long range PCR and sequencing of breakpoints | Ex1del/Ex1del |
| (40 wks) | (c.1-3440_132 + 1943del/c.1-3440_132 + 1943del) | ||||||||
| 11 | Male | 24 wks | 3.8 kg | 3 | 10 | No | India | Long range PCR and sequencing of breakpoints | Ex1del/Ex1del |
| (40 wks) | (c.1-3440_132 + 1943del/c.1-3440_132 + 1943del) |
Mutation nomenclature corresponds to HADH sequence accession NM_005327.2.