|
|||||
|
|
Exome sequencing reveals blended phenotype of double heterozygous FBN1 and FBN2 variants in a fetus |
|
| Authors: | Shagun Aggarwal Aneek Das Bhowmik Ashwani Tandon Ashwin Dalal |
| Affiliation: | 1. Department of Medical Genetics, Nizam''s Institute of Medical Sciences, Hyderabad, India;2. Diagnostics Division, Centre for DNA Fingerprinting & Diagnostics, Hyderabad, India;3. Department of Pathology, Nizam''s Institute of Medical Sciences, Hyderabad, India;4. Department of Pathology and Laboratory Medicine, All India Institute of Medical Sciences, Bhopal, India |
| Abstract: | 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. |
| Keywords: | Fetal exome sequencing Beals syndrome Marfan syndrome Blended phenotype Double heterozygote |
| 本文献已被 ScienceDirect 等数据库收录！ | |