TY - JOUR
T1 - Based on a cohort of 52,879 microarrays, recurrent intragenic FBN2 deletion encompassing exons 1–8 does not cause Beals syndrome
AU - Maya, Idit
AU - Kahana, Sarit
AU - Agmon-Fishman, Ifaat
AU - Klein, Cochava
AU - Matar, Reut
AU - Berger, Racheli
AU - Shohat, Mordechai
AU - Basel-Salmon, Lina
AU - Sharony, Reuven
AU - Sagi-Dain, Lena
N1 - Publisher Copyright:
© 2020
PY - 2020/10
Y1 - 2020/10
N2 - 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.
AB - 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.
KW - Chromosomal microarray analysis
KW - Congenital contractural arachnodactyly
KW - Copy number variation
KW - FBN2
UR - http://www.scopus.com/inward/record.url?scp=85088375882&partnerID=8YFLogxK
U2 - 10.1016/j.ejmg.2020.104008
DO - 10.1016/j.ejmg.2020.104008
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C2 - 32702406
AN - SCOPUS:85088375882
SN - 1769-7212
VL - 63
JO - European Journal of Medical Genetics
JF - European Journal of Medical Genetics
IS - 10
M1 - 104008
ER -