Three novel mutations of the fibrillin-1 gene and ten single nucleotide polymorphisms of the fibrillin-3 gene in Marfan syndrome patients
نویسندگان
چکیده
منابع مشابه
A novel mutation in fibrillin-1 gene identified in a Chinese family with marfan syndrome.
Marfan syndrome (MFS) is an autosomal dominant inheritary disorder of the connective tissue. We report clinical features of a Chinese family with MFS and identify mutations in fibrillin-1 gene (FBN1). In this study, all three members of this family underwent complete ophthalmologic examinations. Two of the three members were diagnosed with MFS. Molecular genetic analysis was performed on the th...
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Marfan syndrome is an autosomal dominant genetic disorder caused by a connective tissue defect. A nine-year-old girl was referred to our pediatric endocrinology clinic for tall stature. Physical examination revealed a lens dislocation with strabismus, high palate, positive wrist and thumb signs, joint hypermobility, and pes planus. Transthoracic echocardiography revealed dilatation of the aorti...
متن کاملTwo novel mutations of fibrillin-1 gene correlate with different phenotypes of Marfan syndrome in Chinese families
PURPOSE To identify the causative mutations in two Chinese families with autosomal dominant Marfan syndrome and to describe the associated phenotypes. METHODS Complete physical, ophthalmic, and cardiovascular examinations were given to the patients and unaffected individuals in the two families. Exclusive linkage mapping was performed for transforming growth factor beta receptor II (TGFBR2) a...
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چکیده: سرطان پستان دومین عامل مرگ مرتبط با سرطان در خانم ها است. از آنجا که سرطان پستان یک تومور وابسته به هورمون است، می تواند توسط وضعیت هورمون های استروئیدی شامل استروژن و پروژسترون تنظیم شود. استروژن نقش مهمی در توسعه و پیشرفت سرطان پستان ایفا می کند و تاثیر خود را روی بیان ژن های هدف از طریق گیرنده های استروژن اعمال می کند. اما گروه دیگری از گیرنده های هسته ای به نام گیرنده های مرتبط به ا...
15 صفحه اولCharacterisation of four novel fibrillin-1 (FBN1) mutations in Marfan syndrome.
Forty-four percent of the fibrillin-1 gene (FBN1) from 19 unrelated families with Marfan syndrome was screened for putative mutations by single strand conformational polymorphism (SSCP) analysis. Four novel mutations were identified and characterised in five people, three with classical Marfan syndrome (two from one family, and one from an unrelated family), one with a more severe phenotype, an...
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ژورنال
عنوان ژورنال: Journal of Human Genetics
سال: 2004
ISSN: 1434-5161,1435-232X
DOI: 10.1007/s10038-004-0168-x