AI Article Synopsis
- Seckel syndrome (SCKL) is a rare genetic disorder with diverse symptoms and has multiple identified genetic loci associated with it.
- A new genetic locus, named SCKL3, has been discovered on chromosome 14q through research involving 13 Turkish families, including 18 affected siblings.
- Out of 10 families studied, five showed linkage to the new locus, with some also linked to previously known loci, indicating complex genetic relationships among families, and SCKL3 contains a gene linked to DNA repair.
Article 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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| http://dx.doi.org/10.1038/sj.ejhg.5201057 | DOI Listing |
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