Description of four patients with TRIP11 variants expand the clinical spectrum of odontochondroplasia (ODCD) and demonstrate the existence of common variants

Pino, Mariana del; Sánchez-Soler, María José; Parrón‐Pajares, Manuel; Aza‐Carmona, Miriam; Heath, Karen E.; Fano, Virginia

doi:10.1016/j.ejmg.2021.104198

Cited by 4 publications

(3 citation statements)

References 15 publications

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“…Radiographic features include platyspondyly with coronal clefts and metaphyseal irregularities in tubular bones (Unger et al, 2008). Dental phenotypes of ODCD1 were mainly dentinogenesis imperfecta (Del Pino et al, 2021; Maroteaux et al, 1996).…”

Section: Syndromic Dentin Defects and Their Pathogenic Genesmentioning

confidence: 99%

Hereditary dentin defects with systemic diseases

Zhu

Wang

et al. 2023

Oral Diseases

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ObjectiveThis review aimed to summarize recent progress on syndromic dentin defects, promoting a better understanding of systemic diseases with dentin malformations, the molecules involved, and related mechanisms.Subjects and MethodsReferences on genetic diseases with dentin malformations were obtained from various sources, including PubMed, OMIM, NCBI, and other websites. The clinical phenotypes and genetic backgrounds of these diseases were then summarized, analyzed, and compared.ResultsOver 10 systemic diseases, including osteogenesis imperfecta, hypophosphatemic rickets, vitamin D‐dependent rickets, familial tumoral calcinosis, Ehlers‐Danlos syndrome, Schimke immuno‐osseous dysplasia, hypophosphatasia, Elsahy‐Waters syndrome, Singleton‐Merten syndrome, odontochondrodysplasia, and microcephalic osteodysplastic primordial dwarfism type II were examined. Most of these are bone disorders, and their pathogenic genes may regulate both dentin and bone development, involving extracellular matrix, cell differentiation, and metabolism of calcium, phosphorus, and vitamin D. The phenotypes of these syndromic dentin defects various with the involved genes, part of them are similar to dentinogenesis imperfecta or dentin dysplasia, while others only present one or two types of dentin abnormalities such as discoloration, irregular enlarged or obliterated pulp and canal, or root malformation.ConclusionSome specific dentin defects associated with systemic diseases may serve as important phenotypes for dentists to diagnose. Furthermore, mechanistic studies on syndromic dentin defects may provide valuable insights into isolated dentin defects and general dentin development or mineralization.

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Section: Syndromic Dentin Defects and Their Pathogenic Genesmentioning

confidence: 99%

Hereditary dentin defects with systemic diseases

Zhu

Wang

et al. 2023

Oral Diseases

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“…Perhaps the best example of a gene at the centre of the Golgi-cilium-ECM continuum is TRIP11 , which encodes the cis-Golgi resident golgin, GMAP210. In humans, null mutations in TRIP11 are causative of achondrogenesis type 2A (ACG2A), while hypomorphic mutations have been identified in cases of odontochondrodysplasia (ODCD) ( Upadhyai et al, 2021 ; Medina et al, 2020 ; Del Pino et al, 2021 ; Wehrle et al, 2019 ). Both diseases are characterised by skeletal dysplasia and poor ECM production, including shortened long bones, craniofacial defects, and delayed or impaired mineralisation ( Medina et al, 2020 ; Upadhyai et al, 2021 ; Wehrle et al, 2019 ).…”

Section: The Golgins Caught At the Intersectionmentioning

confidence: 99%

The factory, the antenna and the scaffold: the three-way interplay between the Golgi, cilium and extracellular matrix underlying tissue function

Stevenson

2023

Biology Open

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The growth and development of healthy tissues is dependent on the construction of a highly specialised extracellular matrix (ECM) to provide support for cell growth and migration and to determine the biomechanical properties of the tissue. These scaffolds are composed of extensively glycosylated proteins which are secreted and assembled into well-ordered structures that can hydrate, mineralise, and store growth factors as required. The proteolytic processing and glycosylation of ECM components is vital to their function. These modifications are under the control of the Golgi apparatus, an intracellular factory hosting spatially organised, protein-modifying enzymes. Regulation also requires a cellular antenna, the cilium, which integrates extracellular growth signals and mechanical cues to inform ECM production. Consequently, mutations in either Golgi or ciliary genes frequently lead to connective tissue disorders. The individual importance of each of these organelles to ECM function is well-studied. However, emerging evidence points towards a more tightly linked system of interdependence between the Golgi, cilium and ECM. This review examines how the interplay between all three compartments underpins healthy tissue. As an example, it will look at several members of the golgin family of Golgi-resident proteins whose loss is detrimental to connective tissue function. This perspective will be important for many future studies looking to dissect the cause and effect of mutations impacting tissue integrity.

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“…It was also shown that GMAP210 can directly capture intra-Golgi vesicles [ 62 ]. Mutations in the thyroid hormone receptor interactor 11 (TRIP11) gene encoding the Golgi-associated microtubule-binding protein 210 (GMAP210) in the human population give rise to a lethal neonatal skeletal dysplasia termed as achondrogenesis (ACG1A) type IA or the much milder nonlethal odontochondrodysplasia (ODCD) depending on whether the mutation leads to a complete or partial loss of function [ 63 , 64 , 65 , 66 , 67 ]. In ACG1A and ODCD, Golgi disruption impairs the posttranslational processing and secretion of several extracellular matrix (ECM) components [ 64 ].…”

Section: Membrane Trafficking Machinerymentioning

confidence: 99%

Getting Sugar Coating Right! The Role of the Golgi Trafficking Machinery in Glycosylation

D'Souza

Sumya

Khakurel

et al. 2021

Cells

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The Golgi is the central organelle of the secretory pathway and it houses the majority of the glycosylation machinery, which includes glycosylation enzymes and sugar transporters. Correct compartmentalization of the glycosylation machinery is achieved by retrograde vesicular trafficking as the secretory cargo moves forward by cisternal maturation. The vesicular trafficking machinery which includes vesicular coats, small GTPases, tethers and SNAREs, play a major role in coordinating the Golgi trafficking thereby achieving Golgi homeostasis. Glycosylation is a template-independent process, so its fidelity heavily relies on appropriate localization of the glycosylation machinery and Golgi homeostasis. Mutations in the glycosylation enzymes, sugar transporters, Golgi ion channels and several vesicle tethering factors cause congenital disorders of glycosylation (CDG) which encompass a group of multisystem disorders with varying severities. Here, we focus on the Golgi vesicle tethering and fusion machinery, namely, multisubunit tethering complexes and SNAREs and their role in Golgi trafficking and glycosylation. This review is a comprehensive summary of all the identified CDG causing mutations of the Golgi trafficking machinery in humans.

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Description of four patients with TRIP11 variants expand the clinical spectrum of odontochondroplasia (ODCD) and demonstrate the existence of common variants

Cited by 4 publications

References 15 publications

Hereditary dentin defects with systemic diseases

Hereditary dentin defects with systemic diseases

The factory, the antenna and the scaffold: the three-way interplay between the Golgi, cilium and extracellular matrix underlying tissue function

Getting Sugar Coating Right! The Role of the Golgi Trafficking Machinery in Glycosylation

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