Dymeclin deficiency causes postnatal microcephaly, hypomyelination and reticulum-to-Golgi trafficking defects in mice and humans.

doi:10.1093/hmg/ddv038

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Dymeclin deficiency causes postnatal microcephaly, hypomyelination and reticulum-to-Golgi trafficking defects in mice and humans.

Human molecular genetics - 15 May 2015

Dupuis Nina, Fafouri Assia, Bayot Aurélien, Kumar Manoj, Lecharpentier Tifenn, Ball Gareth, Edwards David, Bernard Véronique, Dournaud Pascal, Drunat Séverine, Vermelle-Andrzejewski Marie, Vilain Catheline, Abramowicz Marc, Désir Julie, Bonaventure Jacky, Gareil Nelly, Boncompain Gaelle, Csaba Zsolt, Perez Franck, Passemard Sandrine, Gressens Pierre, El Ghouzzi Vincent

Abstract excerpt

Dymeclin is a Golgi-associated protein whose deficiency causes Dyggve-Melchior-Clausen syndrome (DMC, MIM #223800), a rare recessively inherited spondyloepimetaphyseal dysplasia consistently associated with postnatal microcephaly and intellectual disability. While the skeletal phenotype of DMC patients has been extensively described, very little is known about their cerebral anomalies, which result in brain...

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PMID: 25652408
DOI: 10.1093/hmg/ddv038

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