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Clinical exome sequencing reveals a novel pathogenic variant in KIF12 underlying cholestasis with highly variable
Nadia Waheed1, Rehmana Waris1, Maryam Naseer1
1Department of Pediatrics, Pakistan Institute of Medical Sciences (PIMS), Islamabad, Pakistan.
Abstract:
Four 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.
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