胎儿arcn1相关综合征骨骼异常的放射学和组织学表型。

IF 1.3 4区医学 Q3 PATHOLOGY

Pediatric and Developmental Pathology Pub Date : 2024-03-01 Epub Date: 2023-12-03 DOI:10.1177/10935266231213785

Charlotte A Houck, Marije Koopmans, Peter G J Nikkels

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引用次数: 0

摘要

ARCN1基因突变可引起一种综合征性疾病，伴有根状体矮小、微颌后缩和发育迟缓。ARCN1编码外壳蛋白I复合体的δ亚基，这是胶原蛋白1在细胞内运输所必需的，也可能参与内质网(ER)应激反应。在本文中，我们首次描述了一个18周大的ARCN1突变胎儿的骨骼组织学异常，我们认为ARCN1相关综合征的骨骼表型与内质网应激的相似性大于与胶原1代谢缺陷的相似性。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

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

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.

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来源期刊

Pediatric and Developmental Pathology 医学-病理学

CiteScore

3.70

自引率

5.30%

发文量

审稿时长

6-12 weeks

期刊介绍： The Journal covers the spectrum of disorders of early development (including embryology, placentology, and teratology), gestational and perinatal diseases, and all diseases of childhood. Studies may be in any field of experimental, anatomic, or clinical pathology, including molecular pathology. Case reports are published only if they provide new insights into disease mechanisms or new information.