Based on a cohort of 52,879 microarrays, recurrent intragenic FBN2 deletion encompassing exons 1–8 does not cause Beals syndrome

Idit Maya, Sarit Kahana, Ifaat Agmon-Fishman, Cochava Klein, Reut Matar, Racheli Berger, Mordechai Shohat, Lina Basel-Salmon, Reuven Sharony, Lena Sagi-Dain*

*Corresponding author for this work

Research output: Contribution to journalArticlepeer-review

3 Scopus citations

Abstract

Key Message BoxTo our best knowledge, our study presents the first summary of microdeletions encompassing exons 1–8 of FBN2 gene, showing that in Ashkenazi Jews these findings should be classified as benign variant. The paucity of clinical data about FBN2 CNVs in the medical literature and in variant databases emphasizes the importance of sharing this information. This information is expected to facilitate the genetic counseling, alleviate parental anxiety and prevent unnecessary pregnancy terminations.

Original languageEnglish
Article number104008
JournalEuropean Journal of Medical Genetics
Volume63
Issue number10
DOIs
StatePublished - Oct 2020

Keywords

  • Chromosomal microarray analysis
  • Congenital contractural arachnodactyly
  • Copy number variation
  • FBN2

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