POMGnT1 mutation and phenotypic spectrum in muscle-eye-brain disease -: art. no. e115
POMGnT1 mutation and phenotypic spectrum in muscle-eye-brain disease -: art. no. e115
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DOI：
10.1136/jmg.2004.020701
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发表时间：
2004-10-01
影响因子：
4
通讯作者：
Lehesjoki, AE
中科院分区：
文献类型：
--
作者：
Diesen, C;Saarinen, A;Lehesjoki, AE
POMGNT1基因突变广泛分布于编码O-甘露糖b-1，2-N-乙酰氨基葡萄糖基转移酶蛋白的肌肉-眼-脑疾病(MEB)，这是一种常染色体隐性遗传病，其特征是脑畸形、先天性肌营养不良和眼睛异常。MEB在芬兰人群中丰富，其中一个先前描述的突变，c.1539+1G->；在10名不同种族的患者中描述了9个新的POMGNT1突变，使已报道的与MEB相关的POMGNT1突变的数量增加到22个。本研究中和先前发表的非芬兰患者的临床表型与芬兰患者观察到的创始人突变纯合子的变异相同，表明除了POMGNT1基因突变外，其他遗传和环境因素也影响MEB表型。
Mutations located throughout the POMGnT1 gene encoding protein O-mannose b-1, 2-N-acetylglucosaminyltransferase underlie muscle-eye-brain disease (MEB), an autosomal recessive disorder characterised by brain malformation, congenital muscular dystrophy, and ocular abnormalities.MEB is enriched in the Finnish population, where a previously described mutation, c. 1539+ 1G-->A, accounts for 99% of the MEB chromosomes.Nine new POMGnT1 mutations in 10 patients of various ethnic origins are described, adding the number of reported MEB associated POMGnT1 mutations to 22.The clinical phenotypes of the non-Finnish patients in this study and published previously fall within the variation observed in the Finnish patients who are homozygous for the founder mutation, indicating that in addition to mutations in the POMGnT1 gene, other genetic and environmental factors influence the MEB phenotype.