Homozygosity mapping of lethal congenital contractural syndrome type 2 (LCCS2) to a 6 cM interval on chromosome 12q13

American Journal of Medical Genetics. Part a
Ginat NarkisOhad S Birk

Abstract

We have recently described a novel autosomal recessive disorder, lethal congenital contractural syndrome type 2 (LCCS2) (OMIM 607598), in a large Israeli Bedouin kindred. The phenotype, which is lethal in the neonatal period, is distinguished by the presence of a markedly distended urinary bladder. Association of LCCS2 to the known loci associated with arthogryposis was excluded. In the present study, we set out to determine the genetic locus harboring the gene defective in this disease. We performed genome-wide linkage analysis, demonstrating linkage to a approximately 6 cM (corresponding to approximately 7.2 Mb) homozygosity region on chromosome 12q13 between markers D12S1604 and D12S83. Based on recombination events, the interval harboring the disease-associated locus was further narrowed to a region spanning approximately 6 cM ( approximately 6.4 Mb) between D12S325 and D12S1072. Linkage of LCCS2 to that locus was established, with two significant maximum peaks at markers D12S1604 (Z(max) = 10.56 at theta = 0.01) and D12S1700 (Z(max) = 9.23 at theta = 0.00).

References

Jun 1, 1995·Current Opinion in Genetics & Development·V C SheffieldE M Stone
Jul 1, 1994·Human Heredity·A A SchäfferR W Cottingham
Aug 10, 2002·Bioinformatics·M Fishelson, D Geiger
Jan 28, 2003·American Journal of Medical Genetics. Part a·Daniella LandauRivka Carmi

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Citations

Jul 8, 2009·Progress in Lipid Research·Takehiko SasakiAkira Suzuki
Aug 1, 2009·Birth Defects Research. Part A, Clinical and Molecular Teratology·Judith G Hall
Aug 22, 2016·Molecular Neurobiology·Neha SamiImtaiyaz Hassan
Jan 2, 2007·Clinical Orthopaedics and Related Research·Ginat NarkisOhad S Birk
Jul 17, 2020·Frontiers in Physiology·Darshini DesaiSakthivel Sadayappan
Jan 27, 2021·The Journal of Clinical Investigation·Thuy-Linh LeNadège Bondurand

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