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Gene Review:

LCCS1 - lethal congenital contracture syndrome 1

Homo sapiens

This record was replaced with 2733.

Vuopala, K. et al., Mäkelä-Bengs, P. et al., Pakkasjärvi, N. et al., Kho, N. et al., Vuopala, K. et al., et al.

Pakkasjärvi, Ritvanen, Herva, Peltonen, Kestilä, Ignatius,

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Disease relevance of LCCS1

In a national morphology based study of lethal arthrogryposis between 1979 and 1992, 40 fetuses and infants with lethal congenital contracture syndrome (LCCS, McKusick 253310) were found in Finland. The incidence of LCCS in Finland was 1:19,000 births [1].
The neuropathological findings in the LCCS closely resemble those of spinal muscular atrophy (SMA) [2].
A typical phenotype of LCCS fetuses consists of multiple joint contractures, distinct facial features, and hydrops [3].
Alternative terms for this syndrome used in the literature include fetal hypokinesia syndrome, lethal congenital contracture syndrome, and Pena-Shokier syndrome type I. The etiology for the early cases was attributed to neuromuscular disease, with deformations owing to weakness or paralysis of the motor unit [4].

High impact information on LCCS1

We report here the assignment of the LCCS locus to a defined region of chromosome 9q34, between markers D9S1825 and D9S1830 [5].
Assignment of the disease locus for lethal congenital contracture syndrome to a restricted region of chromosome 9q34, by genome scan using five affected individuals [5].
One core haplotype of 3 cM was observed in LCCS alleles, supporting the assumption of one major mutation underlying LCCS, and linkage disequilibrium analysis restricted the critical chromosomal region to <100 kb in the vicinity of marker D9S61 [5].
Lethal congenital contracture syndrome (LCCS), a fetal anterior horn cell disease, is not linked to the SMA 5q locus [2].
The lethal congenital contracture syndrome (LCCS) is an autosomal recessive syndrome (McKusick 253310) leading to perinatal death owing to early onset degeneration of the anterior horn motor neurones of the spinal cord [2].

Biological context of LCCS1

The initial genome scan was performed with the DNA samples of only five affected individuals from two unrelated LCCS families [5].

Anatomical context of LCCS1

Since all the three types of SMA have been localised to the same gene locus on the long arm of chromosome 5, we analysed samples from seven families with 10 LCCS fetuses with the microsatellite markers assigned to the SMA 5q region [2].
Thirty-nine cases had lethal congenital contracture syndrome (LCCS) clinically characterized by total immobility of the fetus at all ultrasound examinations (12 weeks or later), multiple joint contractures in both upper and lower limbs, hydrops, and fetal death before the 32nd week of pregnancy [6].

Analytical, diagnostic and therapeutic context of LCCS1

Lethal congenital contracture syndrome (LCCS) and other lethal arthrogryposes in Finland--an epidemiological study [6].

References

Lethal congenital contracture syndrome: further delineation and genetic aspects. Vuopala, K., Herva, R. J. Med. Genet. (1994) [Pubmed]
Lethal congenital contracture syndrome (LCCS), a fetal anterior horn cell disease, is not linked to the SMA 5q locus. Vuopala, K., Mäkelä-Bengs, P., Suomalainen, A., Herva, R., Leisti, J., Peltonen, L. J. Med. Genet. (1995) [Pubmed]
Indicative oligodendrocyte dysfunction in spinal cords of human fetuses suffering from a lethal motoneuron disease. Pakkasjärvi, N., Gentile, M., Saharinen, J., Honkanen, J., Herva, R., Peltonen, L., Kestilä, M. J. Neurobiol. (2005) [Pubmed]
Pena-Shokier phenotype: case presentation and review. Kho, N., Czarnecki, L., Kerrigan, J.F., Coons, S. J. Child Neurol. (2002) [Pubmed]
Assignment of the disease locus for lethal congenital contracture syndrome to a restricted region of chromosome 9q34, by genome scan using five affected individuals. Mäkelä-Bengs, P., Järvinen, N., Vuopala, K., Suomalainen, A., Ignatius, J., Sipilä, M., Herva, R., Palotie, A., Peltonen, L. Am. J. Hum. Genet. (1998) [Pubmed]
Lethal congenital contracture syndrome (LCCS) and other lethal arthrogryposes in Finland--an epidemiological study. Pakkasjärvi, N., Ritvanen, A., Herva, R., Peltonen, L., Kestilä, M., Ignatius, J. Am. J. Med. Genet. A (2006) [Pubmed]

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