Lethal congenital contracture syndrome 1

Common Name(s)

Lethal congenital contracture syndrome 1

Autosomal recessive lethal congenital contractural syndrome (LCCS) is the most severe, neonatally lethal, form of arthrogryposis (see {108110}), a disorder characterized by congenital nonprogressive joint contractures. The contractures can involve the upper or lower limbs and/or the vertebral column, leading to various degrees of flexion or extension limitations evident at birth (summary by {5:Markus et al., 2012}). Genetic Heterogeneity of Lethal Congenital Contracture Syndrome See also lethal congenital contracture syndrome-2 (LCCS2; {607598}), caused by mutation in the ERBB3 gene ({190151}); LCCS3 ({611369}), caused by mutation in the PIP5K1C gene ({606102}); LCCS4 ({614915}), caused by mutation in the MYBPC1 gene ({160794}); and LCCS5 ({615368}), caused by mutation in the DNM2 gene ({602378}).
 

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Lethal congenital contracture syndrome 1" for support, advocacy or research.

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Scientific Literature

Articles from the PubMed Database

Research articles describe the outcome of a single study. They are the published results of original research.
The terms "Lethal congenital contracture syndrome 1" returned 1 free, full-text research articles on human participants. First 3 results:

A zebrafish model of lethal congenital contracture syndrome 1 reveals Gle1 function in spinal neural precursor survival and motor axon arborization.
 

Author(s): Li-En Jao, Bruce Appel, Susan R Wente

Journal: Development. 2012 Apr;139(7):1316-26.

 

In humans, GLE1 is mutated in lethal congenital contracture syndrome 1 (LCCS1) leading to prenatal death of all affected fetuses. Although the molecular roles of Gle1 in nuclear mRNA export and translation have been documented, no animal models for this disease have been reported. ...

Last Updated: 7 Mar 2012

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The terms "Lethal congenital contracture syndrome 1" returned 0 free, full-text review articles on human participants.

 
 
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Symptoms, Diagnosis, and Treatment

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Clinical Trial Information This information is provided by ClinicalTrials.gov

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