A Novel Splicing Variant of <i>COL2A1</i> in a Fetus with Achondrogenesis Type II: Interpretation of Pathogenicity of In-Frame Deletions

A Novel Splicing Variant of <i>COL2A1</i> in a Fetus with Achondrogenesis Type II: Interpretation of Pathogenicity of In-Frame Deletions

Achondrogenesis type II (ACG2) is a lethal skeletal dysplasia caused by dominant pathogenic variants in <i>COL2A1</i>. Most of the variants found in patients with ACG2 affect the glycine residue included in the Gly-X-Y tripeptide repeat that characterizes the type II collagen helix. In t...

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Bibliographic Details
Main Authors: Valentina Bruni, Cristina Barbara Spoleti, Andrea La Barbera, Vincenzo Dattilo, Emma Colao, Carmela Votino, Emanuele Bellacchio, Nicola Perrotti, Sabrina Giglio, Rodolfo Iuliano
Format: Article
Language:English
Published: MDPI AG 2021-09-01
Series:Genes
Subjects:
skeletal dysplasia
achondrogenesis type II
<i>COL2A1</i>
splicing variant
minigene assay
in-frame deletion
Online Access:https://www.mdpi.com/2073-4425/12/9/1395

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https://www.mdpi.com/2073-4425/12/9/1395

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