作者
Paulina Navon Elkan, Sarah B Pierce, Reeval Segel, Tom Walsh, Judith Barash, Shai Padeh, Abraham Zlotogorski, Yackov Berkun, Joseph J Press, Masha Mukamel, Isabel Voth, Philip J Hashkes, Liora Harel, Vered Hoffer, Eduard Ling, Fatos Yalcinkaya, Ozgur Kasapcopur, Ming K Lee, Rachel E Klevit, Paul Renbaum, Ariella Weinberg-Shukron, Elif F Sener, Barbara Schormair, Sharon Zeligson, Dina Marek-Yagel, Tim M Strom, Mordechai Shohat, Amihood Singer, Alan Rubinow, Elon Pras, Juliane Winkelmann, Mustafa Tekin, Yair Anikster, Mary-Claire King, Ephrat Levy-Lahad
发表日期
2014/3/6
期刊
New England Journal of Medicine
卷号
370
期号
10
页码范围
921-931
出版商
Massachusetts Medical Society
简介
Background
Polyarteritis nodosa is a systemic necrotizing vasculitis with a pathogenesis that is poorly understood. We identified six families with multiple cases of systemic and cutaneous polyarteritis nodosa, consistent with autosomal recessive inheritance. In most cases, onset of the disease occurred during childhood.
Methods
We carried out exome sequencing in persons from multiply affected families of Georgian Jewish or German ancestry. We performed targeted sequencing in additional family members and in unrelated affected persons, 3 of Georgian Jewish ancestry and 14 of Turkish ancestry. Mutations were assessed by testing their effect on enzymatic activity in serum specimens from patients, analysis of protein structure, expression in mammalian cells, and biophysical analysis of purified protein.
Results
In all the families, vasculitis was caused by recessive mutations in CECR1, the gene encoding …
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P Navon Elkan, SB Pierce, R Segel, T Walsh, J Barash… - New England Journal of Medicine, 2014