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首页> 外文期刊>Genetic testing and molecular biomarkers >Prenatal Identification of a Novel R937P L1 CAM Missense Mutation
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Prenatal Identification of a Novel R937P L1 CAM Missense Mutation

机译：产前小说R937P L1凸轮的识别错义突变

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摘要

The L1 cell adhesion molecule (L1CAM) is a protein encoded by a gene that has been localized to Xg28, is a member of the immunoglobulin superfamily of neuronal cell adhesion molecules, and plays a role in CNS development and maturation. L1CAM is expressed in neurons and Schwann cells, where it is active in neurite overgrowth, adhesion fasciculation, migration, myelination, and axon guidance. Mutations within the gene have been associated with phenotypic changes that include hydrocephalus due to aqueductal stenosis, agenesis or hypoplasia of the corpus callosum and corticospinal tracts, mental retardation, spastic paraplegia, and adducted thumbs. Here, we present a 19-year-old primigravida Caucasian woman who was referred to us in the 27th week of the pregnancy because of fetal polyhydramnios and ventriculomegaly. Our evaluation identified a male fetus with hydrocephalus, ventriculomegaly, aqueductal stenosis, and polyhydramnios. An amniocentesis was per-formed, and isolated fetal DNA revealed a hemizygous G > C mutation in codon 2809 of exon 21 of the L1CA/v1 gene. The patient was later tested and identified to be a carrier of the same mutation. The fetus was delivered during the 38th week. Neonatal physical examination revealed marked frontal bossing, contractures of the feet with rocker bottom appearance, and hyperactive reflexes with ankle and knee clonus. He died at 4 months of life.
机译：L1细胞粘附分子(L1CAM)是一种蛋白质由一个基因编码的本地化Xg28,属于免疫球蛋白神经细胞粘附分子的总科,并在中枢神经系统的发展和发挥作用成熟。雪旺细胞,活跃在神经突增生、粘连束状、移民、轴突髓鞘形成,指导。基因与表型相关变化,包括导致脑积水aqueductal狭窄、发育不全或发育不全的胼胝体和皮质脊髓束,精神发育迟滞、痉挛性截瘫加合物的拇指。初孕妇白人妇女我们在27日星期怀孕的胎儿羊水过多和ventriculomegaly。评价确定了男性胎儿脑积水、ventriculomegaly aqueductal狭窄,羊水过多。是被施行,孤立的胎儿DNA显示半合G > C 2809密码子的突变的外显子21 L1CA / v1的基因。测试和确认是相同的载体突变。的一周。前额突出,挛缩的脚摇臂底部的外表,和活跃反射与脚踝和膝盖的阵挛。个月的生活。

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