infantile X-linked spinal muscular atrophy
MIM.301830
X-linked infantile spinal muscular atrophy (XL-SMA) is an X-linked disorder presenting with the clinical features hypotonia, areflexia, and multiple congenital contractures (arthrogryposis) associated with loss of anterior horn cells and infantile death.
Etiology
UBE1 germline mutations in infantile X-linked spinal muscular atrophy (MIM.301830) (18179898)
- Modification of proteins with ubiquitin (UBB) (MIM.191339) or ubiquitin-like proteins controls many signaling networks and requires a ubiquitin activating enzyme (E1), a ubiquitin conjugating enzyme (E2), and a ubiquitin protein ligase (E3).
- UBE1 is an E1 enzyme that initiates the activation and conjugation of ubiquitin-like proteins.
References
Ramser J, Ahearn ME, Lenski C, Yariz KO, Hellebrand H, von Rhein M, Clark RD, Schmutzler RK, Lichtner P, Hoffman EP, Meindl A, Baumbach-Reardon L. Rare missense and synonymous variants in UBE1 are associated with X-linked infantile spinal muscular atrophy. Am J Hum Genet. 2008 Jan;82(1):188-93.PMID: 18179898