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Lookup NU author(s): Professor Judith Goodship
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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 1.18cM and harbors meĢnage a trois 1, a gene with a role in DNA repair.
Author(s): Kilinc MO, Ninis VN, Ugur SA, Tuysuz B, Seven M, Balci S, Goodship J, Tolun A
Publication type: Article
Publication status: Published
Journal: European Journal of Human Genetics
Year: 2003
Volume: 11
Issue: 11
Pages: 851-857
ISSN (print): 1018-4813
ISSN (electronic): 1476-5438
Publisher: Nature Publishing Group
URL: http://dx.doi.org/10.1038/sj.ejhg.5201057
DOI: 10.1038/sj.ejhg.5201057
PubMed id: 14571270
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