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


Kilinc M., Ninis V., Ugur S., Tuysuz B., SEVEN M., Balci S., ...More

EUROPEAN JOURNAL OF HUMAN GENETICS, vol.11, no.11, pp.851-857, 2003 (Peer-Reviewed Journal) identifier identifier identifier

  • Publication Type: Article / Article
  • Volume: 11 Issue: 11
  • Publication Date: 2003
  • Doi Number: 10.1038/sj.ejhg.5201057
  • Journal Name: EUROPEAN JOURNAL OF HUMAN GENETICS
  • Journal Indexes: Science Citation Index Expanded, Scopus
  • Page Numbers: pp.851-857

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 menage a trois 1, a gene with a role in DNA repair.