EXTL3 mutations cause skeletal dysplasia, immune deficiency, and developmental delay.

doi:10.1084/jem.20161525

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Article

EXTL3 mutations cause skeletal dysplasia, immune deficiency, and developmental delay.

The Journal of experimental medicine - 6 Mar 2017

Volpi Stefano, Yamazaki Yasuhiro, Brauer Patrick M, van Rooijen Ellen, Hayashida Atsuko, Slavotinek Anne, Sun Kuehn Hye, Di Rocco Maja, Rivolta Carlo, Bortolomai Ileana, Du Likun, Felgentreff Kerstin, Ott de Bruin Lisa, Hayashida Kazutaka, Freedman George, Marcovecchio Genni Enza, Capuder Kelly, Rath Prisni, Luche Nicole, Hagedorn Elliott J, Buoncompagni Antonella, Royer-Bertrand Beryl, Giliani Silvia, Poliani Pietro Luigi, Imberti Luisa, Dobbs Kerry, Poulain Fabienne E, Martini Alberto, Manis John, Linhardt Robert J, Bosticardo Marita, Rosenzweig Sergio Damian, Lee Hane, Puck Jennifer M, Zúñiga-Pflücker Juan Carlos, Zon Leonard, Park Pyong Woo, Superti-Furga Andrea, Notarangelo Luigi D

Abstract excerpt

We studied three patients with severe skeletal dysplasia, T cell immunodeficiency, and developmental delay. Whole-exome sequencing revealed homozygous missense mutations affecting exostosin-like 3 (EXTL3), a glycosyltransferase involved in heparan sulfate (HS) biosynthesis. Patient-derived fibroblasts showed abnormal HS composition and altered fibroblast growth factor 2 signaling, which was rescued by...

Topics

Animals
Bone Diseases, Developmental
Child, Preschool
Developmental Disabilities
Female
Heparitin Sulfate

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Humans

Immunologic Deficiency Syndromes

Induced Pluripotent Stem Cells

Infant

Lymphocytes

Mutation

N-Acetylglucosaminyltransferases

Zebrafish

Source

Open in PubMed Open full text

Identifiers

PMID: 28148688
DOI: 10.1084/jem.20161525
PMCID: PMC5339678

Genes

EXTL3

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 31 Aug 2026.

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