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Laminopathy

MedGen UID:
1716073
Concept ID:
C5392094
Disease or Syndrome
Synonym: Laminopathies
 
Monarch Initiative: MONDO:0021106
Orphanet: ORPHA98301

Definition

A rare genetic disorder caused by mutations in genes encoding proteins of the nuclear lamina. [from MONDO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • Laminopathy

Professional guidelines

PubMed

Bolano-Diaz C, Verdú-Díaz J, Gonzalez-Chamorro A, Fitzsimmons S, Veeranki G, Straub V, Diaz-Manera J
Neuromuscul Disord 2024 Jan;34:54-60. Epub 2023 Nov 10 doi: 10.1016/j.nmd.2023.11.004. PMID: 38007344
Chen SN, Sbaizero O, Taylor MRG, Mestroni L
Curr Cardiol Rep 2019 Nov 26;21(12):160. doi: 10.1007/s11886-019-1224-7. PMID: 31773301
Piekarowicz K, Machowska M, Dzianisava V, Rzepecki R
Cells 2019 Jan 25;8(2) doi: 10.3390/cells8020088. PMID: 30691039Free PMC Article

Recent clinical studies

Etiology

Pande S, Ghosh DK
FASEB J 2023 Aug;37(8):e23116. doi: 10.1096/fj.202300878R. PMID: 37498235
Evangelisti C, Rusciano I, Mongiorgi S, Ramazzotti G, Lattanzi G, Manzoli L, Cocco L, Ratti S
Cell Mol Life Sci 2022 Feb 8;79(2):126. doi: 10.1007/s00018-021-04084-2. PMID: 35132494Free PMC Article
Chen SN, Sbaizero O, Taylor MRG, Mestroni L
Curr Cardiol Rep 2019 Nov 26;21(12):160. doi: 10.1007/s11886-019-1224-7. PMID: 31773301
Finsterer J, Stöllberger C, Maeztu C
Int J Cardiol 2016 Jan 15;203:508-15. Epub 2015 Oct 28 doi: 10.1016/j.ijcard.2015.10.176. PMID: 26551884
Vantyghem MC, Balavoine AS, Douillard C, Defrance F, Dieudonne L, Mouton F, Lemaire C, Bertrand-Escouflaire N, Bourdelle-Hego MF, Devemy F, Evrard A, Gheerbrand D, Girardot C, Gumuche S, Hober C, Topolinski H, Lamblin B, Mycinski B, Ryndak A, Karrouz W, Duvivier E, Merlen E, Cortet C, Weill J, Lacroix D, Wémeau JL
Ann Endocrinol (Paris) 2012 Jun;73(3):170-89. Epub 2012 Jun 28 doi: 10.1016/j.ando.2012.04.010. PMID: 22748602

Diagnosis

Varlet AA, Helfer E, Badens C
Cells 2020 Aug 23;9(9) doi: 10.3390/cells9091947. PMID: 32842478Free PMC Article
Donnaloja F, Carnevali F, Jacchetti E, Raimondi MT
Cells 2020 May 24;9(5) doi: 10.3390/cells9051306. PMID: 32456328Free PMC Article
Heller SA, Shih R, Kalra R, Kang PB
Muscle Nerve 2020 Apr;61(4):436-448. Epub 2019 Dec 28 doi: 10.1002/mus.26782. PMID: 31840275Free PMC Article
Madej-Pilarczyk A, Kochański A
Folia Neuropathol 2016;54(1):1-8. doi: 10.5114/fn.2016.58910. PMID: 27179216
Vantyghem MC, Balavoine AS, Douillard C, Defrance F, Dieudonne L, Mouton F, Lemaire C, Bertrand-Escouflaire N, Bourdelle-Hego MF, Devemy F, Evrard A, Gheerbrand D, Girardot C, Gumuche S, Hober C, Topolinski H, Lamblin B, Mycinski B, Ryndak A, Karrouz W, Duvivier E, Merlen E, Cortet C, Weill J, Lacroix D, Wémeau JL
Ann Endocrinol (Paris) 2012 Jun;73(3):170-89. Epub 2012 Jun 28 doi: 10.1016/j.ando.2012.04.010. PMID: 22748602

Therapy

Rootwelt-Norberg C, Christensen AH, Skjølsvik ET, Chivulescu M, Vissing CR, Bundgaard H, Aabel EW, Bogsrud MP, Hasselberg NE, Lie ØH, Haugaa KH
Heart Rhythm 2023 Mar;20(3):423-429. Epub 2022 Dec 6 doi: 10.1016/j.hrthm.2022.11.024. PMID: 36494026
Gordon CM, Cleveland RH, Baltrusaitis K, Massaro J, D'Agostino RB Sr, Liang MG, Snyder B, Walters M, Li X, Braddock DT, Kleinman ME, Kieran MW, Gordon LB
Bone 2019 Aug;125:103-111. Epub 2019 May 8 doi: 10.1016/j.bone.2019.05.008. PMID: 31077852Free PMC Article
GóMez-Andrés D, Díaz-Manera J, Alejaldre A, Pulido-Valdeolivas I, GonzáLez-Mera L, Olivé M, Vilchez JJ, De Munain AL, Paradas C, Muelas N, SáNchez-MontáÑez Á, Alonso-Jimenez A, De la Banda MGG, Dabaj I, Bonne G, Munell F, Carlier RY, Quijano-Roy S
Muscle Nerve 2018 Dec;58(6):812-817. Epub 2018 Nov 18 doi: 10.1002/mus.26312. PMID: 30066418
Roberts JD, Gollob MH, Young C, Connors SP, Gray C, Wilton SB, Green MS, Zhu DW, Hodgkinson KA, Poon A, Li Q, Orr N, Tang AS, Klein GJ, Wojciak J, Campagna J, Olgin JE, Badhwar N, Vedantham V, Marcus GM, Kwok PY, Deo RC, Scheinman MM
JACC Clin Electrophysiol 2017 Mar;3(3):276-288. Epub 2016 Dec 21 doi: 10.1016/j.jacep.2016.09.019. PMID: 29759522
Vantyghem MC, Balavoine AS, Douillard C, Defrance F, Dieudonne L, Mouton F, Lemaire C, Bertrand-Escouflaire N, Bourdelle-Hego MF, Devemy F, Evrard A, Gheerbrand D, Girardot C, Gumuche S, Hober C, Topolinski H, Lamblin B, Mycinski B, Ryndak A, Karrouz W, Duvivier E, Merlen E, Cortet C, Weill J, Lacroix D, Wémeau JL
Ann Endocrinol (Paris) 2012 Jun;73(3):170-89. Epub 2012 Jun 28 doi: 10.1016/j.ando.2012.04.010. PMID: 22748602

Prognosis

Hasper J, Welle K, Swovick K, Hryhorenko J, Ghaemmaghami S, Buchwalter A
J Cell Biol 2024 Jan 1;223(1) Epub 2023 Nov 15 doi: 10.1083/jcb.202307049. PMID: 37966721Free PMC Article
Chang L, Huang R, Chen J, Li G, Shi G, Xu B, Wang L
BMC Med Genomics 2023 Oct 2;16(1):229. doi: 10.1186/s12920-023-01661-1. PMID: 37784143Free PMC Article
Brayson D, Shanahan CM
Nucleus 2017 Jan 2;8(1):17-33. doi: 10.1080/19491034.2016.1260798. PMID: 28125396Free PMC Article
McKenna T, Sola Carvajal A, Eriksson M
J Invest Dermatol 2015 Nov;135(11):2577-2583. Epub 2015 Jul 29 doi: 10.1038/jid.2015.295. PMID: 26290387
Morais P, Magina S, Ribeiro Mdo C, Rodrigues M, Lopes JM, Thanh Hle T, Wehnert M, Guimarães H
Eur J Pediatr 2009 Aug;168(8):1007-12. Epub 2008 Nov 20 doi: 10.1007/s00431-008-0868-x. PMID: 19020898

Clinical prediction guides

Chang L, Huang R, Chen J, Li G, Shi G, Xu B, Wang L
BMC Med Genomics 2023 Oct 2;16(1):229. doi: 10.1186/s12920-023-01661-1. PMID: 37784143Free PMC Article
Shah PP, Santini GT, Shen KM, Jain R
Curr Cardiol Rep 2023 May;25(5):307-314. Epub 2023 Apr 13 doi: 10.1007/s11886-023-01853-2. PMID: 37052760Free PMC Article
DuBose AJ, Lichtenstein ST, Petrash NM, Erdos MR, Gordon LB, Collins FS
Proc Natl Acad Sci U S A 2018 Apr 17;115(16):4206-4211. Epub 2018 Mar 26 doi: 10.1073/pnas.1802811115. PMID: 29581305Free PMC Article
Houthaeve G, Robijns J, Braeckmans K, De Vos WH
Physiology (Bethesda) 2018 Jan 1;33(1):39-49. doi: 10.1152/physiol.00029.2017. PMID: 29212891
Astejada MN, Goto K, Nagano A, Ura S, Noguchi S, Nonaka I, Nishino I, Hayashi YK
Acta Myol 2007 Dec;26(3):159-64. PMID: 18646565Free PMC Article

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