کد مقاله کد نشریه سال انتشار مقاله انگلیسی نسخه تمام متن
8644232 1569444 2018 4 صفحه PDF دانلود رایگان
عنوان انگلیسی مقاله ISI
Exome sequencing reveals blended phenotype of double heterozygous FBN1 and FBN2 variants in a fetus
موضوعات مرتبط
علوم زیستی و بیوفناوری بیوشیمی، ژنتیک و زیست شناسی مولکولی ژنتیک
پیش نمایش صفحه اول مقاله
Exome sequencing reveals blended phenotype of double heterozygous FBN1 and FBN2 variants in a fetus
چکیده انگلیسی
We report a 29 week fetus with arthrogryposis multiplex congenita, multiple joint dislocations, scoliosis and dysmorphism who was detected to be double heterozygote for putatively pathogenic FBN1 (NM_000138.4:c.6004C > T; p.Pro2002Ser) and FBN2 (NM_001999.3:c.2945G > T; p.Cys982Phe) variants on exome sequencing. The de-novo status of these variants is not confirmed as parental genotypes could not be ascertained. A comparison of the post-mortem findings of the fetus with reported phenotypes of Beals and Marfan syndromes indicated overlapping clinical features suggestive of a blended phenotype.
ناشر
Database: Elsevier - ScienceDirect (ساینس دایرکت)
Journal: European Journal of Medical Genetics - Volume 61, Issue 7, July 2018, Pages 399-402
نویسندگان
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