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

Charlotte A. Houck; Marije Koopmans; Peter G.J. Nikkels

doi:10.1177/10935266231213785

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

Charlotte A. Houck, Marije Koopmans, Peter G.J. Nikkels^*

^*Corresponding author for this work

Research output: Contribution to journal › Article › Academic › peer-review

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.

Original language	English
Pages (from-to)	176-180
Number of pages	5
Journal	Pediatric and Developmental Pathology
Volume	27
Issue number	2
Early online date	3 Dec 2023
DOIs	https://doi.org/10.1177/10935266231213785
Publication status	Published - 1 Mar 2024

Keywords

autopsy
congenital anomaly
fetal
skeletal dysplasia

Access to Document

10.1177/10935266231213785Licence: CC BY

houck-et-al-2023-the-radiological-and-histological-phenotype-of-skeletal-abnormalities-in-fetal-arcn1-related-syndromeFinal published version, 2.21 MBLicence: CC BY

Cite this

@article{6708ada4ebd148fb8a4ad98461f85ffb,

title = "The Radiological and Histological Phenotype of Skeletal Abnormalities in Fetal ARCN1-Related Syndrome",

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.",

keywords = "autopsy, congenital anomaly, fetal, skeletal dysplasia",

author = "Houck, {Charlotte A.} and Marije Koopmans and Nikkels, {Peter G.J.}",

year = "2024",

month = mar,

day = "1",

doi = "10.1177/10935266231213785",

language = "English",

volume = "27",

pages = "176--180",

journal = "Pediatric and Developmental Pathology",

issn = "1093-5266",

publisher = "SAGE Publications Inc.",

number = "2",

}

TY - JOUR

T1 - The Radiological and Histological Phenotype of Skeletal Abnormalities in Fetal ARCN1-Related Syndrome

AU - Houck, Charlotte A.

AU - Koopmans, Marije

AU - Nikkels, Peter G.J.

PY - 2024/3/1

Y1 - 2024/3/1

N2 - 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.

AB - 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.

KW - autopsy

KW - congenital anomaly

KW - fetal

KW - skeletal dysplasia

UR - http://www.scopus.com/inward/record.url?scp=85178491372&partnerID=8YFLogxK

U2 - 10.1177/10935266231213785

DO - 10.1177/10935266231213785

M3 - Article

C2 - 38044464

AN - SCOPUS:85178491372

SN - 1093-5266

VL - 27

SP - 176

EP - 180

JO - Pediatric and Developmental Pathology

JF - Pediatric and Developmental Pathology

IS - 2

ER -

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

Abstract

Keywords

Access to Document

Other files and links

Fingerprint

Cite this