Journal article

No mutation in genes of the WNT signaling pathway in patients with Zimmermann-Laband syndrome

Benjamin Abo-Dalo, Melanie Roes, Sonia Canun, Martin Delatycki, Gabriele Gillessen-Kaesbach, Ihor Hrytsiuk, Christine Jung, Bronwyn Kerr, David Mowat, Eva Seemanova, Carlos E Steiner, Helen Stewart, Patrick Thierry, Griet van Buggenhout, Sue White, Martin Zenker, Kerstin Kutsche

CLINICAL DYSMORPHOLOGY | LIPPINCOTT WILLIAMS & WILKINS | Published : 2008

Abstract

Zimmermann-Laband syndrome (ZLS) is a rare autosomal dominant disorder, the genetic basis of which has not been identified thus far. We previously mapped the breakpoints of two different translocations in patients with ZLS to a common region in 3p14.3; however, we failed to detect mutations in genes located in a region surrounding both breakpoints as well as in those of another breakpoint region (8q24.3) (Abo-Dalo et al., 2007). The WNT5A gene is located proximal to both breakpoints in 3p14.3, with a distance of around 550 kb or less, making it likely that a position effect may cause deregulated expression of WNT5A. This gene codes for a secreted glycoprotein that belongs to a family of sign..

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