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SKIV2L mutations cause syndromic diarrhea, or trichohepatoenteric syndrome.

Abstract：

: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.

journal_name

Am J Hum Genet

journal_title

American journal of human genetics

authors

Fabre A,Charroux B,Martinez-Vinson C,Roquelaure B,Odul E,Sayar E,Smith H,Colomb V,Andre N,Hugot JP,Goulet O,Lacoste C,Sarles J,Royet J,Levy N,Badens C

doi

10.1016/j.ajhg.2012.02.009

subject

Has Abstract

pub_date

2012-04-06 00:00:00

pages

689-92

issue

4

eissn

0002-9297

issn

1537-6605

pii

S0002-9297(12)00094-8

journal_volume

90

pub_type

杂志文章

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