Table 3 Mutations and diagnoses among children with elevated plasma C-triol and/or ChT
Patient No. | C-triol | ChT | Mutations identified | Main diagnosis |
|---|---|---|---|---|
Group 1 | ||||
1 | 57.8 | 0 | JAG1: c.2384delG (p.G795 fs) ClinVar SUB5165272 | Alagille syndrome |
2 | 56.6 | 224 | LARS: rs34823161 (c.3077A > G, Tyr1026Cys) | Clinical significance not clear (could not be a cause of an autosomal recessive disorder) |
3 | 55.0 | 27 | ABCB11: rs72549402 (c.1445A > G, Asp482Gly) and rs1459273753 (c.2178 + 1G > A) | Byler disease, compound heterozygosity confirmed |
4 | 9.9 | 126 | Not found | Cholestatic liver disease, NOS aetiology |
5 | 5.8 | 166 | Not found | Cholestatic liver disease, NOS aetiology |
6 | 48.0 | 407 | Not found | Biliary atresia |
7 | 16.6 | 253 | Not found | Biliary atresia |
8 | 9.8 | 258 | Not found | Biliary atresia |
9 | 7.6 | 469 | Not found | Biliary atresia |
Group 2 | ||||
10 | 97.6 | 1056 | NPC1: rs886053665 (c.2090 T > C, Val697Ala) and rs786200877 (c.3591 + 1G > A) | NP-C, compound heterozygosity confirmed |