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Lethal arthrogryposis with anterior horn cell disease (LAAHD)

Genes

  • Gle1, rna export mediator (GLE1)

Summary

Arthrogryposis, lethal, with anterior horn cell disease or lethal arthrogryposis with anterior horn cell disease (LAAHD, Vuopala disease) is a fetal immobility syndrome characterized with fetal akinesia, arthrogryposis and motor neuron loss. Clinically this disease resembles lethal congenital contracture syndrome (LCCS, OMIM# 253310), but is slightly milder. More than half of the fetuses with LAAHD survive delivery, but die early as a result of respiratory failure, rest fetuses are stillborn. The akinesia in LAAHD is caused by intrauterine spinal anterior horn cell damage, which leads to multiple joint contractures. The disease is caused by mutations in GLE1 gene which is required for the export of HSP70 mRNA from the nucleus to the cytoplasm. LAAHD patients are compound heterozygotes with LCCS Fin mutation and another mutation.

Links

UMLS Concept names

Selected publications

  • Nousiainen HO, Kestilä M, Pakkasjärvi N, Honkala H, Kuure S, Tallila J, Vuopala K, Ignatius J, Herva R, Peltonen L. Mutations in mRNA export mediator GLE1 result in a fetal motoneuron disease. Nat Genet. 2008 Feb;40(2):155-7. doi: 10.1038/ng.2007.65. (Pubmed)