Congenital disorders of glycosylation (CDG) are a group of rare genetic diseases caused by the deficiency of enzymes involved in the biosynthesis or remodeling of the glycan moieties of glycoconjugates. Most of CDG are autosomal recessive; however, few of them show autosomal dominant or X-linked inheritance. ALG12-CDG is an autosomal recessive inherited defect caused by a deficiency in the α-mannosyltransferase, dolichyl-P-mannose: Man7-GlcNAc-2-PP-dolichyl-alpha-6-mannosyltransferase (mannosyltransferase 8), which determines Man7GlcNAc2-PP-dolichol accumulation in tissues including fibroblasts. The clinical features of ALG12-CDG include dysmorphic features, developmental delay, hypotonia, progressive microcephaly, hypogammaglobulinemia, coagulopathies, and failure to thrive. Herein, we describe the case of a Sicilian patient with a milder phenotype bearing an ALG12 homozygous mutation. To date, including this patient, only 16 cases have been described with this form of CDG. Furthermore, our study contributes to understanding the milder ALG12-CDG cases and to further expanding the genotype-phenotype spectrum.
Mol Syndromol

中文翻译：

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CDG Ig 型患者的新型纯合 ALG12 突变：轻度表型病例的新报告

先天性糖基化障碍 (CDG) 是一组罕见的遗传疾病，由参与糖缀合物的聚糖部分生物合成或重塑的酶缺乏引起。大多数CDG为常染色体隐性遗传；然而，他们中很少有人表现出常染色体显性遗传或 X 连锁遗传。ALG12-CDG 是一种常染色体隐性遗传缺陷，由 α-甘露糖基转移酶 dolichyl-P-mannose：Man7-GlcNAc-2-PP-dolichyl-alpha-6-mannosyltransferase (mannosyltransferase 8) 缺陷引起，它决定了 Man7GlcNAc2-PP -多酚在包括成纤维细胞在内的组织中积累。ALG12-CDG 的临床特征包括畸形特征、发育迟缓、肌张力减退、进行性小头畸形、低丙种球蛋白血症、凝血障碍和发育迟缓。在此处，ALG12纯合突变。迄今为止，包括该患者在内，只有 16 例患者使用这种形式的 CDG 进行了描述。此外，我们的研究有助于了解较温和的 ALG12-CDG 病例并进一步扩大基因型-表型谱。
摩尔综合症