TY - JOUR
T1 - Novel large deletion involving EVC and EVC2 in Ellis–van Creveld syndrome
AU - Sato, Hiroki
AU - Suga, Kenichi
AU - Suzue, Masashi
AU - Honma, Yukako
AU - Hayabuchi, Yasunobu
AU - Miyai, Shunsuke
AU - Kurahashi, Hiroki
AU - Nakagawa, Ryuji
N1 - Funding Information:
The authors thank ELSS (https://www.elss.co.jp/jp/) for English language editing.
Publisher Copyright:
© 2022, The Author(s).
PY - 2022/12
Y1 - 2022/12
N2 - Ellis–van Creveld syndrome is an autosomal recessive skeletal dysplasia that is characterized by thoracic hypoplasia, polydactyly, oral abnormalities, and congenital heart disease. It is caused by pathogenic variants in the EVC or EVC2 genes. We report a case of a newborn with a compound heterozygous variant comprising NM_147127.5: c.1991dup:[p.Lys665Glufs*10] in the EVC2 gene and a novel large deletion involving exon 1 in EVC and exons 1–7 in EVC2.
AB - Ellis–van Creveld syndrome is an autosomal recessive skeletal dysplasia that is characterized by thoracic hypoplasia, polydactyly, oral abnormalities, and congenital heart disease. It is caused by pathogenic variants in the EVC or EVC2 genes. We report a case of a newborn with a compound heterozygous variant comprising NM_147127.5: c.1991dup:[p.Lys665Glufs*10] in the EVC2 gene and a novel large deletion involving exon 1 in EVC and exons 1–7 in EVC2.
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U2 - 10.1038/s41439-022-00190-0
DO - 10.1038/s41439-022-00190-0
M3 - Article
AN - SCOPUS:85130247944
VL - 9
JO - Human Genome Variation
JF - Human Genome Variation
SN - 2054-345X
IS - 1
M1 - 15
ER -