Lethal congenital contractural syndrome

Definition:

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.

References:

[1]. Annie Laquérriere, et al. Mutations in CNTNAP1 and ADCY6 are responsible for severe arthrogryposis multiplex congenita with axoglial defects. Hum Mol Genet. 2014 May 1;23(9):2279-89. [Content Brief]

[2]. Barak Markus, et al. Autosomal recessive lethal congenital contractural syndrome type 4 (LCCS4) caused by a mutation in MYBPC1. Hum Mutat. 2012 Oct;33(10):1435-8. [Content Brief]

[3]. Gianina Ravenscroft, et al. Mutations of GPR126 are responsible for severe arthrogryposis multiplex congenita. Am J Hum Genet. 2015 Jun 4;96(6):955-61. [Content Brief]

[4]. Ginat Narkis, et al. Lethal congenital contractural syndrome type 2 (LCCS2) is caused by a mutation in ERBB3 (Her3), a modulator of the phosphatidylinositol-3-kinase/Akt pathway. Am J Hum Genet. 2007 Sep;81(3):589-95. [Content Brief]

[5]. Ginat Narkis, et al. Lethal contractural syndrome type 3 (LCCS3) is caused by a mutation in PIP5K1C, which encodes PIPKI gamma of the phophatidylinsitol pathway. Am J Hum Genet. 2007 Sep;81(3):530-9. [Content Brief]

[6]. Heidi O Nousiainen, et al. Mutations in mRNA export mediator GLE1 result in a fetal motoneuron disease. Nat Genet. 2008 Feb;40(2):155-7. [Content Brief]

[7]. Jérôme Maluenda, et al. Mutations in GLDN, Encoding Gliomedin, a Critical Component of the Nodes of Ranvier, Are Responsible for Lethal Arthrogryposis. Am J Hum Genet. 2016 Oct 6;99(4):928-933. [Content Brief]

[8]. Jillian P Casey, et al. Recessive NEK9 mutation causes a lethal skeletal dysplasia with evidence of cell cycle and ciliary defects. Hum Mol Genet. 2016 May 1;25(9):1824-35. [Content Brief]

[9]. Nisha Patel, et al. ZBTB42 mutation defines a novel lethal congenital contracture syndrome (LCCS6). Hum Mol Genet. 2014 Dec 15;23(24):6584-93. [Content Brief]

[10]. Olga S Koutsopoulos, et al. Dynamin 2 homozygous mutation in humans with a lethal congenital syndrome. Eur J Hum Genet. 2013 Jun;21(6):637-42. [Content Brief]

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