| H00865 | |
| H number | H00865 |
| Name | Lethal congenital contractural syndrome |
| Description | Lethal congenital contractural syndrome (LCCS) is a heterogeneous group of disorders characterized by congenital nonprogressive joint contractures with a severe form of arthrogryposis. LCCS is inherited in an autosomal recessive manner. It has a worldwide incidence, but it is more common in isolated populations, such as Finland and the Bedouin community in Israel. Several mutations associated with LCCS have been reported. |
| Category | Congenital malformation |
| Network | - |
| Gene | (LCCS1) GLE1 [HSA:2733] [KO:K18723] (LCCS2) ERBB3 [HSA:2065] [KO:K05084] (LCCS3) PIP5K1C [HSA:23396] [KO:K00889] (LCCS4) MYBPC1 [HSA:4604] [KO:K12557] (LCCS5) DNM2 [HSA:1785] [KO:K23484] (LCCS6) ZBTB42 [HSA:100128927] [KO:K23196] (LCCS7) CNTNAP1 [HSA:8506] [KO:K07379] (LCCS8) ADCY6 [HSA:112] [KO:K08046] (LCCS9) ADGRG6 [HSA:57211] [KO:K08463] (LCCS10) NEK9 [HSA:91754] [KO:K20878] (LCCS11) GLDN [HSA:342035] [KO:K16364] |
| Pathogen | - |
| Env factor | - |
| Carcinogen | - |
| Drug | - |
| Comment | - |
| Other DBs | ICD-11: LD26.4Y ICD-10: Q68.8 MeSH: C537194 C564369 C566961 OMIM: 253310 607598 611369 614915 615368 616248 616286 616287 616503 617022 617194 |
| Reference | PMID:18204449 (GLE1) AUTHORS Nousiainen HO, Kestila M, Pakkasjarvi N, Honkala H, Kuure S, Tallila J, Vuopala K, Ignatius J, Herva R, Peltonen L TITLE Mutations in mRNA export mediator GLE1 result in a fetal motoneuron disease. JOURNAL Nat Genet 40:155-7 (2008) DOI:10.1038/ng.2007.65 PMID:17701904 (ERBB3) AUTHORS Narkis G, Ofir R, Manor E, Landau D, Elbedour K, Birk OS TITLE Lethal congenital contractural syndrome type 2 (LCCS2) is caused by a mutation in ERBB3 (Her3), a modulator of the phosphatidylinositol-3-kinase/Akt pathway. JOURNAL Am J Hum Genet 81:589-95 (2007) DOI:10.1086/520770 PMID:17701898 (PIP5K1C) AUTHORS Narkis G, Ofir R, Landau D, Manor E, Volokita M, Hershkowitz R, Elbedour K, Birk OS TITLE Lethal contractural syndrome type 3 (LCCS3) is caused by a mutation in PIP5K1C, which encodes PIPKI gamma of the phophatidylinsitol pathway. JOURNAL Am J Hum Genet 81:530-9 (2007) DOI:10.1086/520771 PMID:22610851 (MYBPC1) AUTHORS Markus B, Narkis G, Landau D, Birk RZ, Cohen I, Birk OS TITLE Autosomal recessive lethal congenital contractural syndrome type 4 (LCCS4) caused by a mutation in MYBPC1. JOURNAL Hum Mutat 33:1435-8 (2012) DOI:10.1002/humu.22122 PMID:23092955 (DNM2) AUTHORS Koutsopoulos OS, Kretz C, Weller CM, Roux A, Mojzisova H, Bohm J, Koch C, Toussaint A, Heckel E, Stemkens D, Ter Horst SA, Thibault C, Koch M, Mehdi SQ, Bijlsma EK, Mandel JL, Vermot J, Laporte J TITLE Dynamin 2 homozygous mutation in humans with a lethal congenital syndrome. JOURNAL Eur J Hum Genet 21:637-42 (2013) DOI:10.1038/ejhg.2012.226 PMID:25055871 (ZBTB42) AUTHORS Patel N, Smith LL, Faqeih E, Mohamed J, Gupta VA, Alkuraya FS TITLE ZBTB42 mutation defines a novel lethal congenital contracture syndrome (LCCS6). JOURNAL Hum Mol Genet 23:6584-93 (2014) DOI:10.1093/hmg/ddu384 PMID:24319099 (CNTNAP1 ADCY6) AUTHORS Laquerriere A, Maluenda J, Camus A, Fontenas L, Dieterich K, Nolent F, Zhou J, Monnier N, Latour P, Gentil D, Heron D, Desguerres I, Landrieu P, Beneteau C, Delaporte B, Bellesme C, Baumann C, Capri Y, Goldenberg A, Lyonnet S, Bonneau D, Estournet B, Quijano-Roy S, Francannet C, Odent S, Saint-Frison MH, Sigaudy S, Figarella-Branger D, Gelot A, Mussini JM, Lacroix C, Drouin-Garraud V, Malinge MC, Attie-Bitach T, Bessieres B, Bonniere M, Encha-Razavi F, Beaufrere AM, Khung-Savatovsky S, Perez MJ, Vasiljevic A, Mercier S, Roume J, Trestard L, Saugier-Veber P, Cordier MP, Layet V, Legendre M, Vigouroux-Castera A, Lunardi J, Bayes M, Jouk PS, Rigonnot L, Granier M, Sternberg D, Warszawski J, Gut I, Gonzales M, Tawk M, Melki J TITLE Mutations in CNTNAP1 and ADCY6 are responsible for severe arthrogryposis multiplex congenita with axoglial defects. JOURNAL Hum Mol Genet 23:2279-89 (2014) DOI:10.1093/hmg/ddt618 PMID:26004201 (ADGRG6) AUTHORS Ravenscroft G, Nolent F, Rajagopalan S, Meireles AM, Paavola KJ, Gaillard D, Alanio E, Buckland M, Arbuckle S, Krivanek M, Maluenda J, Pannell S, Gooding R, Ong RW, Allcock RJ, Carvalho ED, Carvalho MD, Kok F, Talbot WS, Melki J, Laing NG TITLE Mutations of GPR126 are responsible for severe arthrogryposis multiplex congenita. JOURNAL Am J Hum Genet 96:955-61 (2015) DOI:10.1016/j.ajhg.2015.04.014 PMID:26908619 (NEK9) AUTHORS Casey JP, Brennan K, Scheidel N, McGettigan P, Lavin PT, Carter S, Ennis S, Dorkins H, Ghali N, Blacque OE, Mc Gee MM, Murphy H, Lynch SA TITLE Recessive NEK9 mutation causes a lethal skeletal dysplasia with evidence of cell cycle and ciliary defects. JOURNAL Hum Mol Genet 25:1824-35 (2016) DOI:10.1093/hmg/ddw054 PMID:27616481 (GLDN) AUTHORS Maluenda J, Manso C, Quevarec L, Vivanti A, Marguet F, Gonzales M, Guimiot F, Petit F, Toutain A, Whalen S, Grigorescu R, Coeslier AD, Gut M, Gut I, Laquerriere A, Devaux J, Melki J TITLE Mutations in GLDN, Encoding Gliomedin, a Critical Component of the Nodes of Ranvier, Are Responsible for Lethal Arthrogryposis. JOURNAL Am J Hum Genet 99:928-933 (2016) DOI:10.1016/j.ajhg.2016.07.021 |