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

doi:10.1016/j.ejmg.2020.104008

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

European journal of medical genetics - 1 Oct 2020

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

Abstract excerpt

INTRODUCTION: Congenital contractural arachnodactyly (CCA) is a rare connective tissue disorder, associated with heterozygous mutations in the FBN2 gene. The objective of this study was to evaluate the prevalence of an intragenic deletion encompassing exons 1-8 of FBN2 gene in Israeli population. MATERIALS AND METHODS: A search for intragenic FBN2 microdeletions was performed in two databases of chromosomal...

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

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