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

doi:10.1038/s41439-022-00190-0

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

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3 Citations (Scopus)

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 language	English
Article number	15
Journal	Human Genome Variation
Volume	9
Issue number	1
DOIs	https://doi.org/10.1038/s41439-022-00190-0
Publication status	Published - 12-2022

All Science Journal Classification (ASJC) codes

Biochemistry
Molecular Biology
Genetics

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10.1038/s41439-022-00190-0

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title = "Novel large deletion involving EVC and EVC2 in Ellis{\textendash}van Creveld syndrome",

abstract = "Ellis{\textendash}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{\textendash}7 in EVC2.",

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

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doi = "10.1038/s41439-022-00190-0",

language = "English",

volume = "9",

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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

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.

UR - https://www.scopus.com/pages/publications/85130247944

UR - https://www.scopus.com/pages/publications/85130247944#tab=citedBy

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DO - 10.1038/s41439-022-00190-0

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AN - SCOPUS:85130247944

SN - 2054-345X

VL - 9

JO - Human Genome Variation

JF - Human Genome Variation

IS - 1

M1 - 15

ER -

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

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