期刊
AMERICAN JOURNAL OF MEDICAL GENETICS PART A
卷 137A, 期 1, 页码 22-26出版社
WILEY
DOI: 10.1002/ajmg.a.30831
关键词
CDG-Ic; coagulopathy; brachydactyly type B; hALG-6; N-glycosylation; lipid-linked oligosaccharide, glucosyltransferase
Congenital disorder of glycosylation (CDG) type Ic, the second largest subtype of CDG, is caused by mutations in human ALG6 (hALG6). This gene encodes the alpha 1,3-glucosyltransferase that catalyzes transfer of the first glucose residue to the lipid-linked oligosaccharide precursor for N-linked glycosylation. In this report, we describe the first adult patient diagnosed with CDG-Ic, carrying two previously unknown mutations. The first is a three base deletion (897-899delAAT) leading to the loss of 1299, the second is an intronic mutation (IVS7 + 2T > G) that causes aberrant splicing. Wildtype hALG6, delivered by a lentiviral vector into patient's fibroblasts, clearly improves the biochemical phenotype, which confirms that the mutations are disease-causing. Striking clinical findings include limb deficiencies in the fingers, resembling brachydactyly type B, a deep vein thrombosis, pseudotumor cerebri, and endocrine disturbances with pronounced hyperandrogenism and virilization. However, even in adulthood, this patient shows normal magnetic resonance imaging of the brain. (c) 2005 Wiley-Liss, Inc.
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