SKIV2L Mutations Cause Syndromic Diarrhea, or Trichohepatoenteric Syndrome

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Fabre A., Charroux B., Martinez-Vinson C., Roquelaure B., EĞRİTAŞ GÜRKAN Ö., Sayar E., ...Daha Fazla

AMERICAN JOURNAL OF HUMAN GENETICS, cilt.90, sa.4, ss.689-692, 2012 (SCI-Expanded) identifier identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 90 Sayı: 4
  • Basım Tarihi: 2012
  • Doi Numarası: 10.1016/j.ajhg.2012.02.009
  • Dergi Adı: AMERICAN JOURNAL OF HUMAN GENETICS
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Sayfa Sayıları: ss.689-692
  • Gazi Üniversitesi Adresli: Evet

Özet

Syndromic diarrhea (or trichohepatoenteric syndrome) is a rare congenital bowel disorder characterized by intractable diarrhea and woolly hair, and it has recently been associated with mutations in TTC37. Although databases report TTC37 as being the human ortholog of Ski3p, one of the yeast Ski-complex cofactors, this lead was not investigated in initial studies. The Ski complex is a multiprotein complex required for exosome-mediated RNA surveillance, including the regulation of normal mRNA and the decay of nonfunctional mRNA. Considering the fact that TTC37 is homologous to Ski3p, we explored a gene encoding another Ski-complex cofactor, SKIV2L, in six individuals presenting with typical syndromic diarrhea without variation in TTC37. We identified mutations in all six individuals. Our results show that mutations in genes encoding cofactors of the human Ski complex cause syndromic diarrhea, establishing a link between defects of the human exosome complex and a Mendelian disease.