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Article ; Online: TGF-β and BMP Signaling Pathways in Skeletal Dysplasia with Short and Tall Stature.

Costantini, Alice / Guasto, Alessandra / Cormier-Daire, Valérie

Annual review of genomics and human genetics

2023 Volume 24, Page(s) 225–253

Abstract: The transforming growth factor β (TGF-β) and bone morphogenetic protein (BMP) signaling pathways play a pivotal role in bone development and skeletal health. More than 30 different types of skeletal dysplasia are now known to be caused by pathogenic ... ...

Abstract	The transforming growth factor β (TGF-β) and bone morphogenetic protein (BMP) signaling pathways play a pivotal role in bone development and skeletal health. More than 30 different types of skeletal dysplasia are now known to be caused by pathogenic variants in genes that belong to the TGF-β superfamily and/or regulate TGF-β/BMP bioavailability. This review describes the latest advances in skeletal dysplasia that is due to impaired TGF-β/BMP signaling and results in short stature (acromelic dysplasia and cardiospondylocarpofacial syndrome) or tall stature (Marfan syndrome). We thoroughly describe the clinical features of the patients, the underlying genetic findings, and the pathomolecular mechanisms leading to disease, which have been investigated mainly using patient-derived skin fibroblasts and mouse models. Although no pharmacological treatment is yet available for skeletal dysplasia due to impaired TGF-β/BMP signaling, in recent years advances in the use of drugs targeting TGF-β have been made, and we also discuss these advances.
MeSH term(s)	Animals ; Mice ; Osteochondrodysplasias ; Osteosclerosis ; Biological Availability ; Bone Development ; Transforming Growth Factor beta/genetics
Chemical Substances	Transforming Growth Factor beta
Language	English
Publishing date	2023-08-25
Publishing country	United States
Document type	Journal Article ; Review ; Research Support, Non-U.S. Gov't
ZDB-ID	2037670-4
ISSN	1545-293X ; 1527-8204
ISSN (online)	1545-293X
ISSN	1527-8204
DOI	10.1146/annurev-genom-120922-094107
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Article ; Online: Signaling Pathways in Bone Development and Their Related Skeletal Dysplasia.

Guasto, Alessandra / Cormier-Daire, Valérie

International journal of molecular sciences

2021 Volume 22, Issue 9

Abstract: Bone development is a tightly regulated process. Several integrated signaling pathways including HH, PTHrP, WNT, NOTCH, TGF-β, BMP, FGF and the transcription factors SOX9, RUNX2 and OSX are essential for proper skeletal development. Misregulation of ... ...

Abstract	Bone development is a tightly regulated process. Several integrated signaling pathways including HH, PTHrP, WNT, NOTCH, TGF-β, BMP, FGF and the transcription factors SOX9, RUNX2 and OSX are essential for proper skeletal development. Misregulation of these signaling pathways can cause a large spectrum of congenital conditions categorized as skeletal dysplasia. Since the signaling pathways involved in skeletal dysplasia interact at multiple levels and have a different role depending on the time of action (early or late in chondrogenesis and osteoblastogenesis), it is still difficult to precisely explain the physiopathological mechanisms of skeletal disorders. However, in recent years, significant progress has been made in elucidating the mechanisms of these signaling pathways and genotype-phenotype correlations have helped to elucidate their role in skeletogenesis. Here, we review the principal signaling pathways involved in bone development and their associated skeletal dysplasia.
MeSH term(s)	Animals ; Bone Development ; Humans ; Osteochondrodysplasias/metabolism ; Osteochondrodysplasias/physiopathology ; Signal Transduction
Language	English
Publishing date	2021-04-21
Publishing country	Switzerland
Document type	Journal Article ; Review
ZDB-ID	2019364-6
ISSN	1422-0067 ; 1422-0067 ; 1661-6596
ISSN (online)	1422-0067
ISSN	1422-0067 ; 1661-6596
DOI	10.3390/ijms22094321
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Article: Chondrodysplasias With Multiple Dislocations Caused by Defects in Glycosaminoglycan Synthesis.

Dubail, Johanne / Cormier-Daire, Valérie

Frontiers in genetics

2021 Volume 12, Page(s) 642097

Abstract: Chondrodysplasias with multiple dislocations form a group of severe disorders characterized by joint laxity and multiple dislocations, severe short stature of pre- and post-natal onset, hand anomalies, and/or vertebral anomalies. The majority of ... ...

Abstract	Chondrodysplasias with multiple dislocations form a group of severe disorders characterized by joint laxity and multiple dislocations, severe short stature of pre- and post-natal onset, hand anomalies, and/or vertebral anomalies. The majority of chondrodysplasias with multiple dislocations have been associated with mutations in genes encoding glycosyltransferases, sulfotransferases, and transporters implicated in the synthesis or sulfation of glycosaminoglycans, long and unbranched polysaccharides composed of repeated disaccharide bond to protein core of proteoglycan. Glycosaminoglycan biosynthesis is a tightly regulated process that occurs mainly in the Golgi and that requires the coordinated action of numerous enzymes and transporters as well as an adequate Golgi environment. Any disturbances of this chain of reactions will lead to the incapacity of a cell to construct correct glycanic chains. This review focuses on genetic and glycobiological studies of chondrodysplasias with multiple dislocations associated with glycosaminoglycan biosynthesis defects and related animal models. Strong comprehension of the molecular mechanisms leading to those disorders, mostly through extensive phenotypic analyses of
Language	English
Publishing date	2021-06-16
Publishing country	Switzerland
Document type	Journal Article ; Review
ZDB-ID	2606823-0
ISSN	1664-8021
ISSN	1664-8021
DOI	10.3389/fgene.2021.642097
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Article ; Online: Novel variant in LRP6 associated with unusual and severe clinical presentation: Case report.

Previdi, Anaïk / Dubourg, Christèle / Cormier Daire, Valérie / Fradin, Mélanie / Collet, Corinne

Clinical genetics

2024 Volume 105, Issue 6, Page(s) 666–670

Abstract: Low-density lipoprotein receptor-related protein 6 (LRP6) is a co-receptor of the Wnt signaling pathway, which plays an essential role in various biological activities during embryonic and postnatal development. LRP6 is exceptionally associated with rare ...

Abstract	Low-density lipoprotein receptor-related protein 6 (LRP6) is a co-receptor of the Wnt signaling pathway, which plays an essential role in various biological activities during embryonic and postnatal development. LRP6 is exceptionally associated with rare diseases and always with autosomal dominant inheritance. Here we report a familial phenotype of high bone mass associated with skeletal anomalies and oligodontia but also persistent left superior vena cava, inguinal hernia, hepatic cysts, abnormal posterior fossa and genital malformations. Molecular analysis revealed a novel heterozygous variant, NM_002336.2: c.724T>C, p.(Trp242Arg), in affected individuals. This variant is located in the first β-propellant motif of LRP6, to which sclerostin (SOST) and dickkopf1 (DKK1), two LRP6 co-receptor inhibitors and various Wnt ligands bind. According to the literature and integrating data from structural analysis, this variant distorts the binding of SOST and DKK1, thus leading to overactivation of Wnt signaling pathways involved in osteoblast differentiation. This novel heterozygous variant in LRP6 underlies the role of LRP6 in skeletal and dental disorders as well as, probably, cardiac, cerebral and genital developments.
MeSH term(s)	Humans ; Low Density Lipoprotein Receptor-Related Protein-6/genetics ; Male ; Female ; Phenotype ; Mutation/genetics ; Wnt Signaling Pathway/genetics ; Pedigree ; Intercellular Signaling Peptides and Proteins/genetics ; Adaptor Proteins, Signal Transducing/genetics
Chemical Substances	Low Density Lipoprotein Receptor-Related Protein-6 ; LRP6 protein, human ; DKK1 protein, human ; Intercellular Signaling Peptides and Proteins ; Adaptor Proteins, Signal Transducing
Language	English
Publishing date	2024-02-22
Publishing country	Denmark
Document type	Case Reports ; Journal Article ; Research Support, Non-U.S. Gov't
ZDB-ID	221209-2
ISSN	1399-0004 ; 0009-9163
ISSN (online)	1399-0004
ISSN	0009-9163
DOI	10.1111/cge.14501
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Article: New perspectives on the treatment of skeletal dysplasia.

Marzin, Pauline / Cormier-Daire, Valérie

Therapeutic advances in endocrinology and metabolism

2020 Volume 11, Page(s) 2042018820904016

Abstract: The last few decades have been marked by the identification of numerous genes implicated in genetic disorders, helping in the elucidation of the underlying pathophysiology of these conditions. This has allowed new therapeutic approaches to emerge such as ...

Abstract	The last few decades have been marked by the identification of numerous genes implicated in genetic disorders, helping in the elucidation of the underlying pathophysiology of these conditions. This has allowed new therapeutic approaches to emerge such as cellular therapy, gene therapy, or pharmacological therapy for various conditions. Skeletal dysplasias are good models to illustrate these scientific advances. Indeed, several therapeutic strategies are currently being investigated in osteogenesis imperfecta; there are ongoing clinical trials based on pharmacological approaches, targeting signaling pathways in achondroplasia and fibrodysplasia ossificans progressiva or the endoplasmic reticulum stress in metaphyseal dysplasia type Schmid or pseudoachondroplasia. Moreover, the treatment of hypophosphatasia or Morquio A disease illustrates the efficacy of enzyme drug replacement. To provide a highly specialized multidisciplinary approach, these treatments are managed by reference centers. The emergence of treatments in skeletal dysplasia provides new perspectives on the prognosis of these severe conditions and may change prenatal counseling in these diseases over the coming years.
Language	English
Publishing date	2020-03-03
Publishing country	United States
Document type	Journal Article ; Review
ZDB-ID	2554822-0
ISSN	2042-0196 ; 2042-0188
ISSN (online)	2042-0196
ISSN	2042-0188
DOI	10.1177/2042018820904016
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Article ; Online: Determinants of dental care use in patients with rare diseases: a qualitative exploration.

Friedlander, Lisa / Berdal, Ariane / Cormier-Daire, Valérie / Lyonnet, Stanislas / Garcelon, Nicolas

BMC oral health

2023 Volume 23, Issue 1, Page(s) 413

Abstract: Background: Oral health is an inherent part of overall health as an important physiological crossroad of functions such as mastication, swallowing or phonation; and plays a central role in the life of relationships facilitating social and emotional ... ...

Abstract	Background: Oral health is an inherent part of overall health as an important physiological crossroad of functions such as mastication, swallowing or phonation; and plays a central role in the life of relationships facilitating social and emotional expression.Our hypothesis was that in patients with rare diseases, access to dental care could be difficult because of the lack of professionals who know the diseases and accept to treat the patients, but also because some patients with cognitive and intellectual disabilities could not find adequate infrastructure to assist in managing their oral health. Methods: This study employed a qualitative descriptive design including semi-structured interviews using guiding themes. The transcripts were reviewed to identify key themes and interviews were performed until the data were saturated and no further themes emerged. Results: Twenty-nine patients from 7 to 24 years old were included in the study of which 15 patients had an intellectual delay. The results show that access to care is complicated more by aspects concerning intellectual disability than by the fact that the disease is rare. Oral disorders are also an obstacle to the maintenance of their oral health. Conclusion: The oral health of patients with rare diseases, can be greatly enhanced by a pooling of knowledge between health professionals in the various sectors around the patient's care. It is essential that this becomes a focus of national public health action that promotes transdisciplinary care for the benefit of these patients.
MeSH term(s)	Humans ; Child ; Adolescent ; Young Adult ; Adult ; Rare Diseases ; Health Personnel ; Intellectual Disability ; Mastication ; Dental Care ; Qualitative Research
Language	English
Publishing date	2023-06-22
Publishing country	England
Document type	Journal Article ; Research Support, Non-U.S. Gov't
ZDB-ID	2091511-1
ISSN	1472-6831 ; 1472-6831
ISSN (online)	1472-6831
ISSN	1472-6831
DOI	10.1186/s12903-023-03048-1
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Article ; Online: An intermediate phenotype in IDH related enchondromatosis spectrum.

Yilmaz-Gulec, Elif / Marzin, Pauline / Huber-Lequesne, Céline / Cormier-Daire, Valérie

European journal of medical genetics

2023 Volume 66, Issue 3, Page(s) 104697

Abstract: Mosaic variants of IDH1 (isocitrate dehydrogenase-1) R132 and IDH2 (isocitrate dehydrogenase-2) R172 loci were detected in most of the bone cysts of Ollier and Maffucci series and in the blood and tissue samples of metaphyseal enchondromatosis with D-2- ... ...

Abstract	Mosaic variants of IDH1 (isocitrate dehydrogenase-1) R132 and IDH2 (isocitrate dehydrogenase-2) R172 loci were detected in most of the bone cysts of Ollier and Maffucci series and in the blood and tissue samples of metaphyseal enchondromatosis with D-2-hydroxyglutaric aciduria (MC-HGA) patients. We aimed to report an intermediate phenotype comparing with the reported cases. The proband was a 9-year-old boy with widespread metaphyseal enchondromatosis involving metaphyses of long tubular bones, iliac bones and tubular bones of both hands and feet and sparing spine and flat and short bones. He underwent quad whole exome sequencing (index-both parents-healthy sibling). Sanger sequencing was performed for confirmation and segregation purposes. Heterozygous IDH1 R132H (c.395G > A) variant was detected in his blood via whole exome sequencing and Sanger analysis in mosaic state, 22% of the reads and Sanger signal. He had no D-2-hydroxyglutaric aciduria in urinary organic acid analysis. Our case is unique with the presence of IDH1 R132H variant in blood with metaphyseal enchondromatosis without D-2-hydroxyglutaric aciduria. It was a transitional phenotype. With his phenotype, we expand the IDH1/IDH2 related enchondromatosis phenotypes.
MeSH term(s)	Humans ; Enchondromatosis/diagnostic imaging ; Enchondromatosis/genetics ; Isocitrate Dehydrogenase/genetics ; Mutation ; Phenotype ; Male ; Child
Chemical Substances	Isocitrate Dehydrogenase (EC 1.1.1.41)
Language	English
Publishing date	2023-01-14
Publishing country	Netherlands
Document type	Case Reports ; Journal Article
ZDB-ID	2184135-4
ISSN	1878-0849 ; 1769-7212
ISSN (online)	1878-0849
ISSN	1769-7212
DOI	10.1016/j.ejmg.2023.104697
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Article ; Online: Allogeneic bone marrow transplantation in craniometaphyseal dysplasia.

Morelle, Guillaume / Breton, Sylvain / Robert, Matthieu P / Michot, Caroline / Boussard, Charlotte / Cormier-Daire, Valérie / Moshous, Despina

Lancet (London, England)

2024 Volume 403, Issue 10439, Page(s) 1893–1894

MeSH term(s)	Humans ; Bone Diseases, Developmental/surgery ; Bone Diseases, Developmental/diagnostic imaging ; Bone Marrow Transplantation/methods ; Craniofacial Abnormalities/surgery ; Hyperostosis ; Hypertelorism ; Osteochondrodysplasias/surgery ; Transplantation, Homologous ; Female ; Child, Preschool
Language	English
Publishing date	2024-05-11
Publishing country	England
Document type	Journal Article ; Case Reports
ZDB-ID	3306-6
ISSN	1474-547X ; 0023-7507 ; 0140-6736
ISSN (online)	1474-547X
ISSN	0023-7507 ; 0140-6736
DOI	10.1016/S0140-6736(24)00803-1
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Article ; Online: Consideration of oral health in rare disease expertise centres: a retrospective study on 39 rare diseases using text mining extraction method.

Friedlander, Lisa / Vincent, Marc / Berdal, Ariane / Cormier-Daire, Valérie / Lyonnet, Stanislas / Garcelon, Nicolas

Orphanet journal of rare diseases

2022 Volume 17, Issue 1, Page(s) 317

Abstract: Background: Around 8000 rare diseases are currently defined. In the context of individual vulnerability and more specifically the one induced by rare diseases, ensuring oral health is a particularly important issue. The objective of the study is to ... ...

Abstract	Background: Around 8000 rare diseases are currently defined. In the context of individual vulnerability and more specifically the one induced by rare diseases, ensuring oral health is a particularly important issue. The objective of the study is to evaluate the pattern of oral health care course for patients with any rare genetic disease. Description of oral phenotypic signs-which predict a theoretical dental health care course-and effective orientation into an oral healthcare were evaluated. Materials and methods: We set up a retrospective cohort study to describe the consideration of patient oral health and potential orientation to an oral health care course who have at least been seen once between 1 January 2017 and 1 January 2020 in Necker Enfants Malades Hospital. We recruited patients from this study using the data warehouse, Dr Warehouse® (DrWH), from Necker-Enfants Malades Hospital. Results: The study sample included 39 rare diseases, 2712 patients, with 54.7% girls and 45.3% boys. In the sample studied, 27.9% of patients had an acquisition delay or a pervasive developmental disorder. Among the patient files studied, oral and dental phenotypic signs were described for 18.40% of the patients, and an orientation in an oral healthcare was made in 15.60% of patients. The overall "network" effect was significantly associated with description of phenotypic signs (corrected p = 1.44e-77) and orientation to an oral healthcare (corrected p = 23.58e-44). Taking the Defiscience network (rare diseases of cerebral development and intellectual disability) as a reference for the odd ratio analysis, OSCAR, TETECOU, FILNEMUS, FIMARAD, MHEMO networks stand out from the other networks for their significantly higher consideration of oral phenotypic signs and orientation in an oral healthcare. Conclusion: To our knowledge, no study has explored the management of oral health in so many rare diseases. The expected benefits of this study are, among others, a better understanding, and a better knowledge of the oral care, or at least of the consideration of oral care, in patients with rare diseases. Moreover, with the will to improve the knowledge on genetic diseases, oral heath must have a major place in the deep patient phenotyping. Therefore, interdisciplinary consultations with health professionals from different fields are crucial.
MeSH term(s)	Data Mining ; Data Warehousing ; Female ; Humans ; Male ; Oral Health ; Rare Diseases ; Retrospective Studies
Language	English
Publishing date	2022-08-20
Publishing country	England
Document type	Journal Article ; Research Support, Non-U.S. Gov't
ZDB-ID	2225857-7
ISSN	1750-1172 ; 1750-1172
ISSN (online)	1750-1172
ISSN	1750-1172
DOI	10.1186/s13023-022-02467-7
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Article ; Online: SLC10A7, an orphan member of the SLC10 family involved in congenital disorders of glycosylation.

Durin, Zoé / Dubail, Johanne / Layotte, Aurore / Legrand, Dominique / Cormier-Daire, Valérie / Foulquier, François

Human genetics

2022 Volume 141, Issue 7, Page(s) 1287–1298

Abstract: SLC10A7, encoded by the so-called SLC10A7 gene, is the seventh member of a human sodium/bile acid cotransporter family, known as the SLC10 family. Despite similarities with the other members of the SLC10 family, SLC10A7 does not exhibit any transport ... ...

Abstract	SLC10A7, encoded by the so-called SLC10A7 gene, is the seventh member of a human sodium/bile acid cotransporter family, known as the SLC10 family. Despite similarities with the other members of the SLC10 family, SLC10A7 does not exhibit any transport activity for the typical SLC10 substrates and is then considered yet as an orphan carrier. Recently, SLC10A7 mutations have been identified as responsible for a new Congenital Disorder of Glycosylation (CDG). CDG are a family of rare and inherited metabolic disorders, where glycosylation abnormalities lead to multisystemic defects. SLC10A7-CDG patients presented skeletal dysplasia with multiple large joint dislocations, short stature and amelogenesis imperfecta likely mediated by glycosaminoglycan (GAG) defects. Although it has been demonstrated that the transporter and substrate specificities of SLC10A7, if any, differ from those of the main members of the protein family, SLC10A7 seems to play a role in Ca
MeSH term(s)	Amelogenesis Imperfecta ; Congenital Disorders of Glycosylation/genetics ; Glycosaminoglycans/genetics ; Glycosylation ; Humans ; Organic Anion Transporters, Sodium-Dependent ; Osteochondrodysplasias ; Symporters
Chemical Substances	Glycosaminoglycans ; Organic Anion Transporters, Sodium-Dependent ; Slc10a7 protein, human ; Symporters
Language	English
Publishing date	2022-01-08
Publishing country	Germany
Document type	Journal Article
ZDB-ID	223009-4
ISSN	1432-1203 ; 0340-6717
ISSN (online)	1432-1203
ISSN	0340-6717
DOI	10.1007/s00439-021-02420-x
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