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Is the novel SCKL3 at 14q23 the predominant Seckel locus?

Lookup NU author(s): Professor Judith Goodship

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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 1.18cM and harbors ménage a trois 1, a gene with a role in DNA repair.

Publication metadata

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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