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Congenital myasthenic syndromes with glycosylation defect

MedGen UID:
1842196
•Concept ID:
C5680989
•
Disease or Syndrome
Modes of inheritance:
Autosomal recessive inheritance
MedGen UID:
141025
•Concept ID:
C0441748
•
Intellectual Product
Source: Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele).
Autosomal recessive inheritance (Orphanet)
 
Orphanet: ORPHA353327

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVCongenital myasthenic syndromes with glycosylation defect

Professional guidelines

PubMed

Genetic, serological and clinical evaluation of childhood myasthenia syndromes- single center subgroup analysis experience in Turkey.
Özsoy Ö, Cinleti T, Günay Ç, Sarıkaya Uzan G, Giray Bozkaya Ö, Çağlayan AO, Hız Kurul S, Yiş U
Acta Neurol Belg 2023 Dec;123(6):2325-2335. Epub 2023 Sep 1 doi: 10.1007/s13760-023-02370-3. PMID: 37656362
Congenital myasthenic syndromes: pathogenesis, diagnosis, and treatment.
Engel AG, Shen XM, Selcen D, Sine SM
Lancet Neurol 2015 Apr;14(4):420-34. doi: 10.1016/S1474-4422(14)70201-7. PMID: 25792100Free PMC Article

Recent clinical studies

Etiology

Clinical and genetic characterisation of a large Indian congenital myasthenic syndrome cohort.
Polavarapu K, Sunitha B, Töpf A, Preethish-Kumar V, Thompson R, Vengalil S, Nashi S, Bardhan M, Sanka SB, Huddar A, Unnikrishnan G, Arunachal G, Girija MS, Porter A, Azuma Y, Lorenzoni PJ, Baskar D, Anjanappa RM, Keertipriya M, Padmanabh H, Harikrishna GV, Laurie S, Matalonga L, Horvath R, Nalini A, Lochmüller H
Brain 2024 Jan 4;147(1):281-296. doi: 10.1093/brain/awad315. PMID: 37721175Free PMC Article
Clinical and research strategies for limb-girdle congenital myasthenic syndromes.
O'Connor E, Töpf A, Zahedi RP, Spendiff S, Cox D, Roos A, Lochmüller H
Ann N Y Acad Sci 2018 Jan;1412(1):102-112. Epub 2018 Jan 5 doi: 10.1111/nyas.13520. PMID: 29315608
Congenital myasthenic syndromes: recent advances.
Beeson D
Curr Opin Neurol 2016 Oct;29(5):565-71. doi: 10.1097/WCO.0000000000000370. PMID: 27472506
Congenital myasthenic syndromes: pathogenesis, diagnosis, and treatment.
Engel AG, Shen XM, Selcen D, Sine SM
Lancet Neurol 2015 Apr;14(4):420-34. doi: 10.1016/S1474-4422(14)70201-7. PMID: 25792100Free PMC Article
Congenital myasthenic syndromes and the neuromuscular junction.
Rodríguez Cruz PM, Palace J, Beeson D
Curr Opin Neurol 2014 Oct;27(5):566-75. doi: 10.1097/WCO.0000000000000134. PMID: 25159927

Diagnosis

Congenital myasthenic syndromes.
Beeson D
Handb Clin Neurol 2024;203:69-88. doi: 10.1016/B978-0-323-90820-7.00013-6. PMID: 39174255
Clinical and genetic characterisation of a large Indian congenital myasthenic syndrome cohort.
Polavarapu K, Sunitha B, Töpf A, Preethish-Kumar V, Thompson R, Vengalil S, Nashi S, Bardhan M, Sanka SB, Huddar A, Unnikrishnan G, Arunachal G, Girija MS, Porter A, Azuma Y, Lorenzoni PJ, Baskar D, Anjanappa RM, Keertipriya M, Padmanabh H, Harikrishna GV, Laurie S, Matalonga L, Horvath R, Nalini A, Lochmüller H
Brain 2024 Jan 4;147(1):281-296. doi: 10.1093/brain/awad315. PMID: 37721175Free PMC Article
Clinical and research strategies for limb-girdle congenital myasthenic syndromes.
O'Connor E, Töpf A, Zahedi RP, Spendiff S, Cox D, Roos A, Lochmüller H
Ann N Y Acad Sci 2018 Jan;1412(1):102-112. Epub 2018 Jan 5 doi: 10.1111/nyas.13520. PMID: 29315608
Congenital myasthenic syndromes: pathogenesis, diagnosis, and treatment.
Engel AG, Shen XM, Selcen D, Sine SM
Lancet Neurol 2015 Apr;14(4):420-34. doi: 10.1016/S1474-4422(14)70201-7. PMID: 25792100Free PMC Article
Congenital myasthenic syndromes: an update.
Hantaï D, Nicole S, Eymard B
Curr Opin Neurol 2013 Oct;26(5):561-8. doi: 10.1097/WCO.0b013e328364dc0f. PMID: 23995276

Therapy

Congenital myasthenic syndromes: pathogenesis, diagnosis, and treatment.
Engel AG, Shen XM, Selcen D, Sine SM
Lancet Neurol 2015 Apr;14(4):420-34. doi: 10.1016/S1474-4422(14)70201-7. PMID: 25792100Free PMC Article
Mutations in DPAGT1 cause a limb-girdle congenital myasthenic syndrome with tubular aggregates.
Belaya K, Finlayson S, Slater CR, Cossins J, Liu WW, Maxwell S, McGowan SJ, Maslau S, Twigg SR, Walls TJ, Pascual Pascual SI, Palace J, Beeson D
Am J Hum Genet 2012 Jul 13;91(1):193-201. Epub 2012 Jun 27 doi: 10.1016/j.ajhg.2012.05.022. PMID: 22742743Free PMC Article

Prognosis

Genetic, serological and clinical evaluation of childhood myasthenia syndromes- single center subgroup analysis experience in Turkey.
Özsoy Ö, Cinleti T, Günay Ç, Sarıkaya Uzan G, Giray Bozkaya Ö, Çağlayan AO, Hız Kurul S, Yiş U
Acta Neurol Belg 2023 Dec;123(6):2325-2335. Epub 2023 Sep 1 doi: 10.1007/s13760-023-02370-3. PMID: 37656362
The longest reported sibling survivors of a severe form of congenital myasthenic syndrome with the ALG14 pathogenic variant.
Katata Y, Uneoka S, Saijyo N, Aihara Y, Miyazoe T, Koyamaishi S, Oikawa Y, Ito Y, Abe Y, Numata-Uematsu Y, Takayama J, Kikuchi A, Tamiya G, Uematsu M, Kure S
Am J Med Genet A 2022 Apr;188(4):1293-1298. Epub 2021 Dec 31 doi: 10.1002/ajmg.a.62629. PMID: 34971077
Congenital glycosylation disorder: a novel presentation of coexisting anterior and posterior segment pathology and its implications in pediatric cataract management.
Etzel JD, Neely KA, Ely AL
J AAPOS 2019 Oct;23(5):297-300. Epub 2019 May 30 doi: 10.1016/j.jaapos.2019.05.004. PMID: 31153949
Leukoencephalopathy due to variants in GFPT1-associated congenital myasthenic syndrome.
Helman G, Sharma S, Crawford J, Patra B, Jain P, Bent SJ, Urtizberea JA, Saran RK, Taft RJ, van der Knaap MS, Simons C
Neurology 2019 Feb 5;92(6):e587-e593. Epub 2019 Jan 11 doi: 10.1212/WNL.0000000000006886. PMID: 30635494
Mutations in GFPT1-related congenital myasthenic syndromes are associated with synaptic morphological defects and underlie a tubular aggregate myopathy with synaptopathy.
Bauché S, Vellieux G, Sternberg D, Fontenille MJ, De Bruyckere E, Davoine CS, Brochier G, Messéant J, Wolf L, Fardeau M, Lacène E, Romero N, Koenig J, Fournier E, Hantaï D, Streichenberger N, Manel V, Lacour A, Nadaj-Pakleza A, Sukno S, Bouhour F, Laforêt P, Fontaine B, Strochlic L, Eymard B, Chevessier F, Stojkovic T, Nicole S
J Neurol 2017 Aug;264(8):1791-1803. Epub 2017 Jul 15 doi: 10.1007/s00415-017-8569-x. PMID: 28712002

Clinical prediction guides

Genetic, serological and clinical evaluation of childhood myasthenia syndromes- single center subgroup analysis experience in Turkey.
Özsoy Ö, Cinleti T, Günay Ç, Sarıkaya Uzan G, Giray Bozkaya Ö, Çağlayan AO, Hız Kurul S, Yiş U
Acta Neurol Belg 2023 Dec;123(6):2325-2335. Epub 2023 Sep 1 doi: 10.1007/s13760-023-02370-3. PMID: 37656362
The longest reported sibling survivors of a severe form of congenital myasthenic syndrome with the ALG14 pathogenic variant.
Katata Y, Uneoka S, Saijyo N, Aihara Y, Miyazoe T, Koyamaishi S, Oikawa Y, Ito Y, Abe Y, Numata-Uematsu Y, Takayama J, Kikuchi A, Tamiya G, Uematsu M, Kure S
Am J Med Genet A 2022 Apr;188(4):1293-1298. Epub 2021 Dec 31 doi: 10.1002/ajmg.a.62629. PMID: 34971077
Leukoencephalopathy due to variants in GFPT1-associated congenital myasthenic syndrome.
Helman G, Sharma S, Crawford J, Patra B, Jain P, Bent SJ, Urtizberea JA, Saran RK, Taft RJ, van der Knaap MS, Simons C
Neurology 2019 Feb 5;92(6):e587-e593. Epub 2019 Jan 11 doi: 10.1212/WNL.0000000000006886. PMID: 30635494
Global N-linked Glycosylation is Not Significantly Impaired in Myoblasts in Congenital Myasthenic Syndromes Caused by Defective Glutamine-Fructose-6-Phosphate Transaminase 1 (GFPT1).
Chen Q, Müller JS, Pang PC, Laval SH, Haslam SM, Lochmüller H, Dell A
Biomolecules 2015 Oct 16;5(4):2758-81. doi: 10.3390/biom5042758. PMID: 26501342Free PMC Article
Clinical and pathological heterogeneity of a congenital disorder of glycosylation manifesting as a myasthenic/myopathic syndrome.
Monies DM, Al-Hindi HN, Al-Muhaizea MA, Jaroudi DJ, Al-Younes B, Naim EA, Wakil SM, Meyer BF, Bohlega S
Neuromuscul Disord 2014 Apr;24(4):353-9. Epub 2014 Jan 4 doi: 10.1016/j.nmd.2013.12.010. PMID: 24461433

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