Article
Mutations in EXTL3 Cause Neuro-immuno-skeletal Dysplasia Syndrome.
American journal of human genetics - 2 Feb 2017
Oud Machteld M, Tuijnenburg Paul, Hempel Maja, van Vlies Naomi, Ren Zemin, Ferdinandusse Sacha, Jansen Machiel H, Santer René, Johannsen Jessika, Bacchelli Chiara, Alders Marielle, Li Rui, Davies Rosalind, Dupuis Lucie, Cale Catherine M, Wanders Ronald J A, Pals Steven T, Ocaka Louise, James Chela, Müller Ingo, Lehmberg Kai, Strom Tim, Engels Hartmut, Williams Hywel J, Beales Phil, Roepman Ronald, Dias Patricia, Brunner Han G, Cobben Jan-Maarten, Hall Christine, Hartley Taila, Le Quesne Stabej Polona, Mendoza-Londono Roberto, Davies E Graham, de Sousa Sérgio B, Lessel Davor, Arts Heleen H, Kuijpers Taco W
Abstract excerpt
EXTL3 regulates the biosynthesis of heparan sulfate (HS), important for both skeletal development and hematopoiesis, through the formation of HS proteoglycans (HSPGs). By whole-exome sequencing, we identified homozygous missense mutations c.1382C>T, c.1537C>T, c.1970A>G, and c.2008T>G in EXTL3 in nine affected individuals from five unrelated families. Notably, we found the identical homozygous missense mutation...
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