Clinical and genetic analysis of a family affected by progressive familial intraphepatic cholestasis type 3 / 中华医学遗传学杂志

ABSTRACT

<p><b>OBJECTIVE</b>To explore the clinical and genetic characteristics of a family affected by genetic cholestasis.</p><p><b>METHODS</b>Clinical data of the patient was collected. Targeted exome sequencing was carried out to detect the pathogenic mutations. The results were confirmed by Sanger sequencing.</p><p><b>RESULTS</b>The patient, a 5-year-old boy, presented with severe cholestatic cirrhosis. Genetic analysis revealed that he has carried compound heterozygous mutations c.1006-2A>G and c.3580C>T (p.R1194X) of the ABCB4 gene, which were inherited from his father and mother, respectively. By structural prediction, the mutation c.3580C>T can give rise to a truncated multi-drug resistance protein 3 (MDR3).</p><p><b>CONCLUSION</b>The patient was diagnosed with progressive familial intrahepatic cholestasis type 3 (PFIC-3) based on clinical and molecular findings. Detection of novel mutations of the ABCB4 gene has provided valuable clues for the diagnosis and genetic counseling.</p>