NBAS-associated phenotype: a clinical case report

Abstract

Pathogenic variants of the NBAS gene cause an autosomal recessive hereditary disease associated with a wide range of symptoms affecting the liver, skeletal, and nervous system. Recently, a less than 100 patients have been described who have attempted to uncover the phenotype-genotype correlation. We present a clinical description of a patient with a clinical phenotype combining symptoms of SOPH syndrome (OMIM# 614800) and isolated acute liver failure type 2 (ILFS2, OMIM#616483). Biallelic pathogenic variants of the NBAS gene NM_015909.4:c.686dupT; p.(Ser230Glnfs*4) and the missense variant NM_015909.4:c.5741G>A; p.Arg1914His gene were identified using whole-exome sequencing (WES). The variants were validated using the Sanger sequencing method, and their transposition was proved.