Kondo I, Mizugishi K, Yoneda Y, Hashimoto T, Kuwajima K, Yuasa I, Shigemoto K, Kuroda Y
Department of Hygiene, Ehime University School of Medicine, Japan.
Clin Genet. 1999 Jan;55(1):50-4. doi: 10.1034/j.1399-0004.1999.550109.x.
Carbohydrate-deficient glycoprotein syndrome type 1 (CDG1) (MIM: 212065) is an autosomal recessive disorder with psychomotor retardation, strokelike episodes, ataxia, and olivopontocerebellar atrophy (OPCA) of neonatal onset. Recently, DNA substitutions in a gene for phosphomannomutase 2 (PMM2), mapped to 16p13, were identified in patients with CDG1. Biochemical findings in previously reported Japanese patients with CDG1 were slightly different from those of Caucasians, suggesting genetic heterogeneity of CDG1 in Japanese patients. We investigated the DNA sequence of PMM2 in two unrelated Japanese families with CDG1. Missense mutations in exon 5 (Phe144Leu) and exon 8 (Tyr229Ser, Arg238Pro) of the PMM2 gene were present in two families, but they were not present in 72 unrelated healthy Japanese individuals. One of the missense mutations, Phe144Leu in exon 5, was common to two families with CDG1. Our findings confirm that mutations in the PMM2 gene account for at least some Japanese patients with CDG1 similar to that seen in Caucasians and that exons 5 and 8 are hot spots of mutations of CDG1 caused by the PMM2 gene.
1型糖基化缺陷糖蛋白综合征（CDG1）（MIM：212065）是一种常染色体隐性疾病，新生儿期起病，伴有精神运动发育迟缓、类中风发作、共济失调和橄榄脑桥小脑萎缩（OPCA）。最近，在CDG1患者中发现了位于16p13的磷酸甘露糖变位酶2（PMM2）基因中的DNA替代。先前报道的日本CDG1患者的生化检查结果与白种人略有不同，提示日本患者中CDG1存在遗传异质性。我们对两个不相关的日本CDG1家族的PMM2基因序列进行了研究。两个家族的PMM2基因外显子5（Phe144Leu）和外显子8（Tyr229Ser、Arg238Pro）存在错义突变，但72名不相关的健康日本个体中未出现这些突变。外显子5中的错义突变Phe144Leu在两个CDG1家族中都存在。我们的研究结果证实，PMM2基因突变至少在部分日本CDG1患者中存在，与白种人情况相似，并且外显子5和8是由PMM2基因导致的CDG1突变热点。
