Exome sequencing reveals blended phenotype of double heterozygous FBN1 and FBN2 variants in a fetus

被引：9

作者：

Aggarwal, Shagun ^{[1
,2
]}

Das Bhowmik, Aneek ^{[2
]}

Tandon, Ashwani ^{[3
,4
]}

Dalal, Ashwin ^{[1
,2
]}

机构：

[1] Nizams Inst Med Sci, Dept Med Genet, Hyderabad 500082, Telangana, India

[2] Ctr DNA Fingerprinting & Diagnost, Diagnost Div, Hyderabad, India

[3] Nizams Inst Med Sci, Dept Pathol, Hyderabad, India

[4] All India Inst Med Sci, Dept Pathol & Lab Med, Bhopal, India

来源：

EUROPEAN JOURNAL OF MEDICAL GENETICS | 2018年 / 61卷 / 07期

关键词：

Fetal exome sequencing; Beals syndrome; Marfan syndrome; Blended phenotype; Double heterozygote; SEVERE INTELLECTUAL DISABILITY; GENETIC-VARIANTS; MUTATION; ABNORMALITIES; ULTRASOUND; DIAGNOSIS;

D O I：

10.1016/j.ejmg.2018.02.009

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

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.

引用

页码：399 / 402

页数：4

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