X-linked spinal muscular atrophy (SMAX2) caused by de novo c.1731C>T substitution in the UBA1 gene

Neuromuscular Disorders

Volumn 25, Issue 8, 2015, Pages 661-666

  Jedrzejowska, Maria ^a   Jakubowska Pietkiewicz, Elzbieta ^b   Kostera Pruszczyk, Anna ^c  

^a MOSSAKOWSKI MEDICAL RESEARCH CENTRE   (Poland)

^b MEDICAL UNIVERSITY OF LODZ   (Poland)

^c MEDICAL UNIVERSITY OF WARSAW   (Poland)

Author keywords

Arflexia; Arthrogryposis; Congenital fractures; Hypotonia; SMAX2; UBA1 gene

Indexed keywords

SURVIVAL MOTOR NEURON PROTEIN 1; SURVIVAL MOTOR NEURON PROTEIN 2; UBE1 PROTEIN, HUMAN; UBIQUITIN PROTEIN LIGASE;

AMINO ACID SUBSTITUTION; APNEA; AREFLEXIA; ARTICLE; CASE REPORT; CONTRACTURE; CRYPTORCHISM; DYSPHAGIA; EXON; FACE DYSMORPHIA; FETUS MOVEMENT; FUNNEL CHEST; GENE; GENE MUTATION; HUMAN; JOINT CONTRACTURE; MALE; MUSCLE WEAKNESS; NEWBORN; PRIORITY JOURNAL; RESPIRATORY TRACT DISEASE; SMN1 GENE; SMN2 GENE; SPINAL MUSCULAR ATROPHY; UBA1 GENE; X LINKED SPINAL MUSCULAR ATROPHY; ARTHROGRYPOSIS; COMPLICATION; FRACTURES, BONE; GENETIC DISEASES, X-LINKED; GENETICS; MUTATION;

ARTHROGRYPOSIS; FRACTURES, BONE; GENETIC DISEASES, X-LINKED; HUMANS; INFANT, NEWBORN; MALE; MUTATION; UBIQUITIN-ACTIVATING ENZYMES;

EID: 84937642172     PISSN: 09608966     EISSN: 18732364     Source Type: Journal    
DOI: 10.1016/j.nmd.2015.05.001     Document Type: Article

References (22)

1. Ramser J., Ahearn M.E., Lenski C., et al. Rare missense and synonymous variants in UBE1 are associated with X-linked infantile spinal muscular atrophy. Am J Hum Genet 2008, 82:188-193.
2. Dressman D., Ahearn M.E., Yariz K.O. X-linked infantile spinal muscular atrophy: clinical definition and molecular mapping. Genet Med 2007, 9:52-60.
3. Lecker S.H., Goldberg A.L., Mitch W.E. Protein degradation by the ubiquitin-proteasome pathway in normal and disease states. J Am Soc Nephrol 2006, 17:1807-1819.
4. Kobayashi H., Baumbach L., Matise T.C., et al. A gene for a severe lethal form of X-linked arthrogryposis (X-linked infantile spinal muscualar atrophy) maps to human chromosome Xp11.2-q11.2. Hum Mol Genet 1995, 4:1213-1216.
5. Dlamini N., Josifova D.J., Paine S.M.L., et al. Clinical and neurophysiological features of X-linked spinal muscular atrophy (SMAX2) associated with a novel mutation in the UBA1 gene. Neuromuscul Disord 2013, 23:391-398.
6. Koo W.W., Walters J., Bush A.J., et al. Dual-energy X-ray absorptiometry studies of bone mineral status in newborn infants. J Bone Miner Res 1996, 11:97-102.
7. Hennekam R.C.M., Barth P.G., van Lookeren Campagne W., et al. A family with severe X-linked arthrogryposis. Eur J Pediatr 1991, 150:656-660.
8. Borochowitz Z., Glick B., Blazer S. Infantile spinal muscular atrophy (SMA) and multiple congenital bone fractures in sibs: a lethal new syndrome. J Med Genet 1991, 28:345-348.
9. Kizilates S.U., Talim B., Sel K., et al. Severe lethal spinal muscular atrophy variant with arthrogryposis. Pediatr Neurol 2005, 32:201-204.
10. Greenberg F., Fenolio K.R., Hejtmancik J.F., et al. X-linked infantile spinal muscular atrophy. Am J Dis Child 1988, 142:217-219.
11. Garcia-Cabezas M.A., Garcia-Alix A., Martin Y., et al. Neonatal spinal muscular atrophy with multiple contractures, bone fractures, respiratory insufficiency and 5q13 deletion. Acta Neuropathol 2004, 107:475-478.
12. Ryan M.M., Schnell C., Strickland C.D., et al. Nemaline myopathy: a clinical study of 143 cases. Ann Neurol 2001, 50:312-320.
13. Wallefeld W., Krause S., Nowak K.J., et al. Severe nemlaine myopathy caused by mutations of the top codon of the skeletal muscle alpha actin gene (ACTA1). Neuromuscul Disord 2006, 16:541-547.
14. Garcia-Angarita N., Kirchner J., Heiliger M., et al. Severe nemaline myopathy associated with consecutive mutations E74D and H75 Y on a single ACTA1 allele. Neuromuscul Disord 2009, 19:481-484.
15. Cahill P.J., Rinella A.S., Bielski R.J. Orthopaedic complications of myotubular myopathy. J Pediatr Orthop 2007, 27:98-103.
16. Larson C.M., Hendreson R.C. Bone mineral density and fractures in boys with Duchenne muscular dystrophy. J Pediatr Orthop 2000, 20:71-74.
17. Leet A., Mesfin A., Pichard C., et al. Fractures in children with cerebral palsy. J Pediatr Orthop 2006, 26:624-627.
18. Kovacs C.S. Bone development and mineral homeostasis in the fetus and neonate: roles of the calciotropic and phosphor tropic hormones. Physiol Rev 2014, 94:1143-1218.
19. Arai A., Mitsuhashi S., Saito Y., et al. Nemaline (actin) myopathy with myofibrillar and abnormal ossification. Neuromuscul Disord 2009, 19:485-488.
20. Shanmugarajan S., Swoboda K.J., Iannaccone S.T., et al. Congenital bone fracture in spinal muscular atrophy: functional role for SMN protein in bone remodeling. J Child Neurol 2007, 22:967-973.
21. Hsiu-Yu L., Pfleger C.M. Mutation in E1, the ubiquitin activating enzyme, reduces Drosophila lifespan and results in motor impairment. PLoS One 2013, 8:e32835.
22. Wishart T.M., Mutsaers C.A., Riessland M., et al. Dysregulation of ubiquitin homeostasis and b-catenin signaling promote spinal muscular atrophy. J Clin Invest 2014, 124:1821-1834.