Novel large deletion involving EVC and EVC2 in Ellis–van Creveld syndrome

Hiroki Sato, Kenichi Suga, Masashi Suzue, Yukako Honma, Yasunobu Hayabuchi, Shunsuke Miyai, Hiroki Kurahashi, Ryuji Nakagawa

Research output: Contribution to journalArticlepeer-review

Abstract

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.

Original languageEnglish
Article number15
JournalHuman Genome Variation
Volume9
Issue number1
DOIs
Publication statusPublished - 12-2022

All Science Journal Classification (ASJC) codes

  • Biochemistry
  • Molecular Biology
  • Genetics

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