biostudies-literatureUnknown13(3)Ozturk OSpinal muscular atrophy, X-linked 2 (SMAX2) is a rare type of spinal muscular atrophy characterized by muscle weakness, hypotonia, areflexia, myopathic face, tongue fibrillations, contractures, bone fractures, and cryptorchidism. Variants of the <i>UBA1</i> gene lead to SMAX2. The <i>UBA1</i> gene encodes a protein that activates the ubiquitin pathway which is responsible for protein degradation. Here, we describe a family presenting with hypotonia, muscle weakness, areflexia, contractures, weak cry, in association with other anomalies including myopathic face, scoliosis, tongue fibrillations, and cryptorchidism. Molecular analysis in 2 patients revealed a hemizygous pathogenic variant in the <i>UBA1</i> gene (NM_153280.3, NP_695012.1: c.1731C>T [p.Asn577Asn]) inherited from their carrier Molecular syndromology246-253https://www.ebi.ac.uk/biostudies/studies/S-EPMC9149478biostudies-literatureX-Linked Spinal Muscular Atrophy 2 due to a Synonymous Variant in the <i>UBA1</i> Gene in a Family with Novel Findings from Turkey.PMC9149478Ozturk OBagıs HCavdartepe BEfalseX-Linked Spinal Muscular Atrophy 2 due to a Synonymous Variant in the <i>UBA1</i> Gene in a Family with Novel Findings from Turkey.Spinal muscular atrophy, X-linked 2 (SMAX2) is a rare type of spinal muscular atrophy characterized by muscle weakness, hypotonia, areflexia, myopathic face, tongue fibrillations, contractures, bone fractures, and cryptorchidism. Variants of the <i>UBA1</i> gene lead to SMAX2. The <i>UBA1</i> gene encodes a protein that activates the ubiquitin pathway which is responsible for protein degradation. Here, we describe a family presenting with hypotonia, muscle weakness, areflexia, contractures, weak cry, in association with other anomalies including myopathic face, scoliosis, tongue fibrillations, and cryptorchidism. Molecular analysis in 2 patients revealed a hemizygous pathogenic variant in the <i>UBA1</i> gene (NM_153280.3, NP_695012.1: c.1731C>T [p.Asn577Asn]) inherited from their carrier 2022-01-01T00:00:00Z2022 May2025-04-04T22:32:35.504Z2025-02-19T03:23:49.28ZS-EPMC91494783570759710.1159/000519640