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

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 heterozygou...

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Detalles Bibliográficos
Autores principales: Sato, Hiroki, Suga, Kenichi, Suzue, Masashi, Honma, Yukako, Hayabuchi, Yasunobu, Miyai, Shunsuke, Kurahashi, Hiroki, Nakagawa, Ryuji
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2022
Materias:
Data Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9114401/
https://www.ncbi.nlm.nih.gov/pubmed/35581188
http://dx.doi.org/10.1038/s41439-022-00190-0
Descripción
Sumario: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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