ABCMdb

PMID: 26473142

Boga S, Jain D, Schilsky ML
Presentation of Progressive Familial Intrahepatic Cholestasis Type 3 Mimicking Wilson Disease: Molecular Genetic Diagnosis and Response to Treatment.
Pediatr Gastroenterol Hepatol Nutr. 2015 Sep;18(3):202-8. doi: 10.5223/pghn.2015.18.3.202. Epub 2015 Sep 25., [PubMed]

Sentences

No. Mutations Sentence Comment

49 ABCB4 p.Cys1073Tyr ABCB4 p.Tyr328* The patient was found to have compound heterozygosity for novel mutations in the ABCB4 gene and had inherited one mutation from each parent (father: c.984T&#ff1e;G [p.Y328*], mother: c.3218G &#ff1e;A [p.C1073Y]), consistent with a diagnosis of PFIC3. Login to comment 90 ABCB4 p.Tyr328* One of the mutations, c.984T &#ff1e;G (p.Y328*), has not been previously reported in the literature. Login to comment 91 ABCB4 p.Tyr328* This is predicted to be a nonsense mutation that results in a premature stop codon (p.Y328*) and thus is categorized as a deleterious mutation. Login to comment 92 ABCB4 p.Cys1073Tyr The other mutation, c.3218G &#ff1e;A (p.C1073Y), is a novel variant not previously reported in the literature. Login to comment