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Table 3 Mutations and diagnoses among children with elevated plasma C-triol and/or ChT

From: Oxysterol/chitotriosidase based selective screening for Niemann-Pick type C in infantile cholestasis syndrome patients

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
  1. NOS not otherwise specified. Normal central laboratory values for plasma C-triol 0–50 ng/ml and ChT 2.5–100 nM/h/ml