AARS Novel Homozygous Variant in Two Lebanese Siblings with Isolated Transient Neonatal Axial Hypotonia

Abstract

AARS mutations are associated with many clinical presentations that range from neuropathy to developmental syndromes and have either recessive or dominant patterns of inheritance. Here we present the first reported Lebanese patients with a novel AARS gene variant. The two female patients presented with a transient axial neonatal hypotonia with a muscle biopsy showing secondary mitochondrial dysfunction. The patients’ symptoms showed a benign progression during the first year of life until reaching normal developmental milestones. The present case helps to widen the clinical spectrum of AARS gene mutations in order to include neonatal transient axial hypotonia.