AARS Novel Homozygous Variant in Two Lebanese Siblings with Isolated Transient Neonatal Axial Hypotonia
Hicham MANSOUR1,2*, Ghewa A EL-ACHKAR2, Rola MAADARANI2, Siba RAMADAN2, Marie-Belle EL RAHI2 and Mamdouha BARMADA3
1Department of Pediatrics, Neurometabolic Unit, Saint George University Medical Center, Lebanon.
2Faculty of Medicine, Saint George University of Beirut, Lebanon.
3Neuromuscular Pathology department, American University of Beirut, Lebanon.
*Corresponding Author: Hicham MANSOUR, Department of Pediatrics, Neurometabolic Unit, Saint George University Medical Center, Lebanon.
DOI: https://doi.org/10.58624/SVOAPD.2024.03.060
Received: March 27, 2023 Published: April 16, 2024
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.
Keywords: Alanyl-tRNA synthetase (AARS); Axial hypotonia; ARS genes; Lebanese patients
Citation: Mansour H, El-Achkar GA, Maadarani R, Ramadan S, El Rahi MB, Barmada M. AARS Novel Homozygous Variant in Two Lebanese Siblings with Isolated Transient Neonatal Axial Hypotonia. SVOA Paediatrics 2024, 3:2, 25-29.