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

KILINC M., NINIS V., Ugur S. A., Tuysuz B., Seven M., BALCI S., ...Daha Fazla

EUROPEAN JOURNAL OF HUMAN GENETICS, cilt.11, sa.11, ss.851-857, 2003 (SCI-Expanded) identifier identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 11 Sayı: 11
  • Basım Tarihi: 2003
  • Doi Numarası: 10.1038/sj.ejhg.5201057
  • Dergi Adı: EUROPEAN JOURNAL OF HUMAN GENETICS
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Sayfa Sayıları: ss.851-857
  • İstanbul Üniversitesi Adresli: Evet

Özet

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.