Abstract
We describe in this report the clinical, biochemical, and molecular features of a Saudi infant with hepatocerebral MDS secondary to a novel homozygous mutation in the MPV17 gene. An automated sequencing of the nuclear MPV17 gene was performed. The coding region (7 exons) of the MPV17 gene was amplified using an M13-tagged intronic primer and screened by direct sequencing of the PCR-amplified products (GenBank Association Number NM_002437.4). The sequencing of the entire coding region and intron-exon boundaries of MPV17 gene revealed a single homozygous variant, -c.278A > C(p.Q93P), which predicts the substitution of a highly conserved amino acid. This particular sequence variant has not been previously reported as a single-nucleotide polymorphism (SNP) or pathogenic mutation. Diagnostic workup for neonatal liver disorders should include mutation screening for known genes. The new advances in molecular genetics can help clinicians establish the diagnosis in a timely fashion, which may prevent a child from undergoing invasive and expensive investigations.