@article{oai:tsukuba.repo.nii.ac.jp:00053898,
 author = {堀米, 仁志 and HORIGOME, Hitoshi and 村上, 卓 and MURAKAMI, Takashi and 山城, 義人 and YAMASHIRO, Yoshito and 柳沢, 裕美 and YANAGISAWA, Hiromi and Sugiyama, Kaori and Lin, Lisheng and Shiono, Junko and Matsuura, Hiroyuki and Yoda, Hitoshi},
 issue = {11},
 journal = {Molecular Genetics & Genomic Medicine},
 month = {Nov},
 note = {Background
Supravalvular aortic stenosis (SVAS) is one of the congenital cardiovascular diseases characterized by stenosis of the aorta. The stenotic lesions occur anywhere above the aortic valve in the aortic tree as well as pulmonary arteries and eventually leads to circulatory failure. The disease gene has been identified on the elastin gene (ELN) and two types of SVAS have been categorized; a familial type and an isolated type with the de novo mutation.

Methods
Fluorescent In situ hybridization (FISH) analysis and gene sequencing were performed in a two‐generation family in which severe form of SVAS was diagnosed.

Results
None of the patients tested showed microdeletion of ELN, LIMK1, and D7S613. A novel nonsense mutation of ELN (c.160G>T (p.(Gly54*)), RNA not analyzed) was found in exon 3 in three members; two of them died suddenly due to rapid progression of SVAS with possible arrhythmia in early infancy. A point mutation in the 5’ untranslated region, which was previously suggested to be associated with SVAS, did not co‐segregate with the SVAS phenotype and found to be SNPs.

Conclusion
Our report shows a broad spectrum of clinical features in family members sharing the identical mutations, suggesting a potential contribution of modifier gene(s) or interactions with environmental factors.},
 title = {Novel ELN mutation in a Japanese family with a severe form of supravalvular aortic stenosis},
 volume = {7},
 year = {2019},
 yomi = {ホリゴメ, ヒトシ and ムラカミ, タカシ and ヤマシロ, ヨシト and ヤナギサワ, ヒロミ}
}