Assignment of the disease locus for lethal congenital contracture syndrome to a restricted region of chromosome 9q34, by genome scan using five affected individuals - PubMed (original) (raw)
Assignment of the disease locus for lethal congenital contracture syndrome to a restricted region of chromosome 9q34, by genome scan using five affected individuals
P Mäkelä-Bengs et al. Am J Hum Genet. 1998 Aug.
Abstract
Lethal congenital contracture syndrome (LCCS) is an autosomal recessive disease leading to death before the 32d gestational week. It is characterized by the fetal akinesia phenotype, with highly focused degeneration of motoneurons in the spinal cord as the main neuropathological finding. We report here the assignment of the LCCS locus to a defined region of chromosome 9q34, between markers D9S1825 and D9S1830. The initial genome scan was performed with the DNA samples of only five affected individuals from two unrelated LCCS families. The conventional linkage analysis performed with 20 affected individuals and their families was focused on those chromosomal regions in which the affected siblings were identical by descent in the initial scan. 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. Two genes, NGAL (neutrophil gelatinase-associated lipocalin and NOTCH 1, were excluded as causative genes for LCCS
Similar articles
- 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. Vuopala K, et al. J Med Genet. 1995 Jan;32(1):36-8. doi: 10.1136/jmg.32.1.36. J Med Genet. 1995. PMID: 7897624 Free PMC article. - Assignment of the locus for a new lethal neonatal metabolic syndrome to 2q33-37.
Visapää I, Fellman V, Varilo T, Palotie A, Raivio KO, Peltonen L. Visapää I, et al. Am J Hum Genet. 1998 Nov;63(5):1396-403. doi: 10.1086/302123. Am J Hum Genet. 1998. PMID: 9792866 Free PMC article. - LCCS: a lethal motoneuron disease of the fetus maps to chromosome 9q34.
Järvinen N, Mäkelä-Bengs P, Suomalainen A, Vuopala K, Herva R, Palotie A, Peltonen L. Järvinen N, et al. Ann N Y Acad Sci. 1998 Oct 23;857:260-2. doi: 10.1111/j.1749-6632.1998.tb10127.x. Ann N Y Acad Sci. 1998. PMID: 9917852 No abstract available. - Assignment of the locus for hydrolethalus syndrome to a highly restricted region on 11q23-25.
Visapää I, Salonen R, Varilo T, Paavola P, Peltonen L. Visapää I, et al. Am J Hum Genet. 1999 Oct;65(4):1086-95. doi: 10.1086/302603. Am J Hum Genet. 1999. PMID: 10486328 Free PMC article. - The genetics of autism.
Muhle R, Trentacoste SV, Rapin I. Muhle R, et al. Pediatrics. 2004 May;113(5):e472-86. doi: 10.1542/peds.113.5.e472. Pediatrics. 2004. PMID: 15121991 Review.
Cited by
- Distal Arthrogryposis and Lethal Congenital Contracture Syndrome - An Overview.
Desai D, Stiene D, Song T, Sadayappan S. Desai D, et al. Front Physiol. 2020 Jun 25;11:689. doi: 10.3389/fphys.2020.00689. eCollection 2020. Front Physiol. 2020. PMID: 32670090 Free PMC article. Review. - Extension of the phenotypic spectrum of GLE1-related disorders to a mild congenital form resembling congenital myopathy.
Cerino M, Di Meglio C, Albertini F, Audic F, Riccardi F, Boulay C, Philip N, Bartoli M, Lévy N, Krahn M, Chabrol B. Cerino M, et al. Mol Genet Genomic Med. 2020 Aug;8(8):e1277. doi: 10.1002/mgg3.1277. Epub 2020 Jun 14. Mol Genet Genomic Med. 2020. PMID: 32537934 Free PMC article. - Exploring Missense Mutations in Tyrosine Kinases Implicated with Neurodegeneration.
Sami N, Kumar V, Islam A, Ali S, Ahmad F, Hassan I. Sami N, et al. Mol Neurobiol. 2017 Sep;54(7):5085-5106. doi: 10.1007/s12035-016-0046-5. Epub 2016 Aug 20. Mol Neurobiol. 2017. PMID: 27544236 Review. - A zebrafish model of lethal congenital contracture syndrome 1 reveals Gle1 function in spinal neural precursor survival and motor axon arborization.
Jao LE, Appel B, Wente SR. Jao LE, et al. Development. 2012 Apr;139(7):1316-26. doi: 10.1242/dev.074344. Epub 2012 Feb 22. Development. 2012. PMID: 22357925 Free PMC article. - Genetics of motor neuron disorders: new insights into pathogenic mechanisms.
Dion PA, Daoud H, Rouleau GA. Dion PA, et al. Nat Rev Genet. 2009 Nov;10(11):769-82. doi: 10.1038/nrg2680. Epub 2009 Oct 13. Nat Rev Genet. 2009. PMID: 19823194 Review.
References
- FEBS Lett. 1994 Oct 31;354(1):7-11 - PubMed
- Nat Genet. 1994 Dec;8(4):380-6 - PubMed
- Am J Hum Genet. 1998 Feb;62(2):362-72 - PubMed
- Neuropediatrics. 1996 Feb;27(1):8-15 - PubMed
- Cell. 1991 Aug 23;66(4):649-61 - PubMed
Publication types
MeSH terms
Substances
LinkOut - more resources
Full Text Sources
Other Literature Sources
Molecular Biology Databases
Miscellaneous