Clinical exome sequencing reveals a novel pathogenic variant in KIF12 underlying cholestasis with highly variable phenotypes

Clin Genet. 2023 Oct 22. doi: 10.1111/cge.14444. Online ahead of print.ABSTRACTFour affected individuals from a large consanguineous family were diagnosed with variable phenotypes of cholestasis based on their clinical laboratory and biopsy findings. Cholestasis is a condition when there is not enough bile flow between liver and small intestine. Two of the affected individuals (IV-1, IV-4) died of cholestatic liver at an early age, while the other two patients are alive with chronic liver disease. Clinical exome and Sanger sequencing identified a novel homozygous pathogenic variant (c.482-7_500del) in the patients.PMID:37866826 | DOI:10.1111/cge.14444

Source: Clinical Genetics - October 22, 2023 Category: Genetics & Stem Cells Authors: Nadia Waheed Rehmana Waris Maryam Naseer Ayesha Razzaq Sufyan Suleman Asmat Ullah Source Type: research