The Radiological and Histological Phenotype of Skeletal Abnormalities in Fetal <i>ARCN1</i>-Related Syndrome-Reference-Cited by-同舟云学术

The Radiological and Histological Phenotype of Skeletal Abnormalities in Fetal ARCN1-Related Syndrome

Published:2023-12-03 Issue: Volume: Page:
ISSN:1093-5266
Container-title:Pediatric and Developmental Pathology
language:en
Short-container-title:Pediatr Dev Pathol

Author:

Houck Charlotte A.¹,Koopmans Marije²,Nikkels Peter G. J.¹^ORCID

Affiliation:

1. Department of Pathology, University Medical Center Utrecht, Utrecht, The Netherlands

2. Department of Clinical Genetics, University Medical Center Utrecht, Utrecht, The Netherlands

Abstract

Mutations in ARCN1 give rise to a syndromic disorder with rhizomelic short stature with microretrognathia and developmental delay. ARCN1 encodes the delta subunit of the coat protein I complex, which is required for intracellular trafficking of collagen 1 and which may also be involved in the endoplasmic reticulum (ER) stress response. In this paper we describe for the first time the skeletal histological abnormalities in an 18-week-old fetus with an ARCN1 mutation, and we suggest that the skeletal phenotype in ARCN1-related syndrome has more resemblance with ER stress than with a defect in collagen 1 metabolism.

Publisher

SAGE Publications

Subject

General Medicine,Pathology and Forensic Medicine,Pediatrics, Perinatology and Child Health

Link

http://journals.sagepub.com/doi/pdf/10.1177/10935266231213785

Reference13 articles.

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2. Transient N ‐glycosylation abnormalities likely due to a de novo loss‐of‐function mutation in the delta subunit of coat protein I

3. Novel de novo ARCN1 intronic variant causes rhizomelic short stature with microretrognathia and developmental delay

4. Expanding the phenotypic spectrum of ARCN1-related syndrome

5. Interaction between KDELR2 and HSP47 as a Key Determinant in Osteogenesis Imperfecta Caused by Bi-allelic Variants in KDELR2