Abstract
Seckel syndrome (SCKL) is a rare disease with wide phenotypic heterogeneity. A locus (SCKL1) has been identified at 3q and another (SCKL2) at 18p, both in single kindreds afflicted with the syndrome. We report here a novel locus (SCKL3) at 14q by linkage analysis in 13 Turkish families. In total, 18 affected and 10 unaffected sibs were included in the study. Of the 10 informative families, nine with parental consanguinity and one reportedly nonconsanguineous but with two affected sibs, five were indicative of linkage to the novel locus. One of those families also linked to the SCKL1 locus. A consanguineous family with one affected sib was indicative of linkage to SCKL2. The novel gene locus SCKL3 is 1.18 cM and harbors ménage a trois 1, a gene with a role in DNA repair.
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Acknowledgements
We are grateful to the families for their participation. SAU is a fellow of the Scientific and Technical Research Council of Turkey. This work was supported by the State Planning Organization and the Turkish
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Academy of Sciences.
Electronic-Database Information Online Mendelian Inheritance in Man (OMIM), http://www.ncbi.nlm.nih.gov/Omim/ (for SCKL [MIM 210600]) Center for Medical Genetics, http://research.marshfieldclinic.org/genetics/ (for genetic mapping information) The Genome Database (GDB), http://www.gdb.org/ (for genetic mapping information)
National Center for Biotechnology Information (NCBI), http://www.ncbi.nlm.nih.gov/ and UCSC Genome Bioinformatics, http://www.genome.ucsc.edu/ (to access GenBank)
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Kılınç, M., Ninis, V., Uǧur, S. et al. Is the novel SCKL3 at 14q23 the predominant Seckel locus?. Eur J Hum Genet 11, 851–857 (2003). https://doi.org/10.1038/sj.ejhg.5201057
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DOI: https://doi.org/10.1038/sj.ejhg.5201057
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