# A Rare Case of Neonatal Cholestasis Linked to FOCAD Gene Variants: Exploring the Variable Phenotypic Presentation and Its Implications

## TL;DR

This paper reports a rare case of liver disease in a newborn linked to a genetic variant in the FOCAD gene.

## Contribution

The study highlights a rare neonatal liver disease case caused by FOCAD gene variants, adding to limited existing literature.

## Key findings

- A FOCAD gene variant was identified as the likely cause of neonatal liver disease in a rare case.
- This case expands the understanding of variable phenotypic presentations linked to FOCAD gene variants.
- Next-generation sequencing enabled the identification of this rare genetic cause.

## Abstract

Neonatal liver disease is a broad entity. When it presents in conjunction with other abnormalities, it raises the question of a potential underlying genetic cause. Etiologies that were once difficult to diagnose are becoming more readily identifiable with the arrival of next-generation sequencing. We present a rare cause of neonatal liver disease, a FOCAD gene variant, that was determined to be the most likely cause of an infant's liver disease and other findings. This case adds to only a few reports in the literature on this presentation in the neonatal period.