Prenatal diagnosis in laminin α2 chain (merosin)-deficient congenital muscular dystrophy: A collective experience of five international centers

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• 作者：Mariz Vainzof ; Pascale Richard ; Ralf Herrmann ; Cecilia Jimenez-Mallebrera ; Beril Talim ; Lydia U. Yamamoto ; Cé ; line Ledeuil ; Rachael Mein ; Stephen Abbs ; Martin Brockington et al.
• 关键词：MDC1A ; α ; 2-laminin ; Merosin ; Prenatal diagnosis
• 刊名：Neuromuscular Disorders
• 出版年：2005
• 出版时间：2005
• 年：2005
• 卷：15
• 期：9-10
• 页码：588-594
• 全文大小：203 K

文摘

The congenital muscular dystrophies (CMD) are clinically and genetically heterogeneous. The merosin (laminin α2 chain) deficient form (MDC1A), is characterized clinically by neonatal hypotonia, delayed motor milestones and associated contractures. It is caused by deficiency in the basal lamina of muscle fibers of the α2 chain of laminins 2 and 4 (LAMA2 gene at 6q22–23). Laminin α2 chain is also expressed in fetal trophoblast, which provides a suitable tissue for prenatal diagnosis in families where the index case has total deficiency of the protein. This article reports the collective experience of five centers over the past 10 years in 114 prenatal diagnostic studies using either protein analysis of the chorionic villus (CV) of the trophoblast plus DNA molecular studies with markers flanking the 6q22–23 region and intragenic polymorphisms (n