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

Ginat Narkis, Daniella Landau, Esther Manor, Khalil Elbedour, Anna Tzemach, Ma'ayan Fishelson, Dan Geiger, Rivka Ofir, Rivka Carmi, Ohad S. Birk

Research output: Contribution to journalArticlepeer-review

17 Scopus citations

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 ∼6 cM (corresponding to ∼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 ∼6 cM (∼6.4 Mb) between D12S325 and D12S1072. Linkage of LCCS2 to that locus was established, with two significant maximum peaks at markers D12S1604 (Zmax = 10.56 at θ = 0.01) and D12S1700 (Zmax = 9.23 at θ = 0.00).

Original languageEnglish
Pages (from-to)272-276
Number of pages5
JournalAmerican Journal of Medical Genetics
Volume130 A
Issue number3
DOIs
StatePublished - 15 Oct 2004

Keywords

  • Arthrogryposis
  • Contractural syndrome
  • Gene
  • LCCS2
  • Linkage analysis

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