Article
Mutations in STAMBP, encoding a deubiquitinating enzyme, cause microcephaly-capillary malformation syndrome.
Nature genetics - 1 May 2013
McDonell Laura M, Mirzaa Ghayda M, Alcantara Diana, Schwartzentruber Jeremy, Carter Melissa T, Lee Leo J, Clericuzio Carol L, Graham John M, Morris-Rosendahl Deborah J, Polster Tilman, Acsadi Gyula, Townshend Sharron, Williams Simon, Halbert Anne, Isidor Bertrand, David Albert, Smyser Christopher D, Paciorkowski Alex R, Willing Marcia, Woulfe John, Das Soma, Beaulieu Chandree L, Marcadier Janet, Geraghty Michael T, Frey Brendan J, Majewski Jacek, Bulman Dennis E, Dobyns William B, O'Driscoll Mark, Boycott Kym M
Abstract excerpt
Microcephaly-capillary malformation (MIC-CAP) syndrome is characterized by severe microcephaly with progressive cortical atrophy, intractable epilepsy, profound developmental delay and multiple small capillary malformations on the skin. We used whole-exome sequencing of five patients with MIC-CAP syndrome and identified recessive mutations in STAMBP, a gene encoding the deubiquitinating (DUB) isopeptidase STAMBP...
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