Genetic and Genomics of Skeletal Disorders”, ‘Genes’ Journal Special Issues, including rare skeletal diseases sub-topic
Rare Skeletal Diseases”, Tabloid di Ortopedia Column (Articles in Italian only)

List of scientific publications related to ERN BOND



Lifetime impact of achondroplasia: Current evidence and perspectives on the natural history
Hoover-Fong J et al. Bone

Safe and persistent growth-promoting effects of vosoritide in children with achondroplasia: 2-year results from an open-label, phase 3 extension study
Savarirayan R et al. Nature/ Genetics in Medicine

Caffey disease is associated with distinct arginine to cysteine substitutions in the proα1(I) chain of type I procollagen
Dhooge T et al. Genet Med.

The Treatment of Recurrent Congential clubfoot
Radler C. Foot Ankle Clin. 2021 Dec;26(4):619-637

Hypophosphatasia: A Case of Two Patients With Spinal Cord Compression From Increase in Ligamentous Ossifications During Treatment
Laroche M et al. JBMR Plus

Utility of genetic testing for prenatal presentations of hypophosphatasia
Sperelakis-Beedham B et al. Mol Genet Metab

Lethal Encephalopathy in an Infant with Hypophosphatasia despite Enzyme Replacement Therapy
Raimann A et al. Horm Res Paediatr. 2021 Oct 21

Presenting features and molecular genetics of primary hyperparathyroidism in the paediatric population
El Allali Y et al. Eur J Endocrinol

Identification of the third FGF9 variant in a girl with multiple synostosis-comparison of the genotype:phenotype of FGF9 variants in humans and mice
Sentchordi-Montané L et al. Clin Genet

Low bone mass in Noonan syndrome children correlates with decreased muscle mass and low IGF-1 levels

Delagrange M et al. BONE

Human dentin characteristics of patients with osteogenesis imperfecta: insights into collagen-based biomaterials
Pragnère S et al. Acta Biomaterialia

Abnormalities in Tooth Formation after Early Bisphosphonate Treatment in Children with Osteogenesis Imperfecta
Malmgren B et al. Calcif Tissue Int.

Osteogenesis Imperfecta: characterization of fractures during pregnancy and post-partum
Koumakis E et al. Orphanet J Rare Dis. 2022

A standard set of outcome measures for the comprehensive assessment of osteogenesis imperfecta
Wouter Nijhuis 1 et al Orphanet J Rare Dis. 2021 Mar 20;16(1):140.

The WNT1 G177C mutation specifically affects skeletal integrity in a mouse model of osteogenesis imperfecta type XV
Vollersen N et al. Bone Res 2021 Nov 10;9(1):48.

Pseudohypoparathyroidism, acrodysostosis, progressive osseous heteroplasia: different names for the same spectrum of diseases?
Elli FM et al. Endocrine

Pseudohypoparathyroidism: Focus on Cerebral and Renal Calcifications
Mazoni L et al. J Clin Endocrinol Metab

Is ghrelin a biomarker of early-onset scoliosis in children with Prader-Willi syndrome?
Pacoricona Alfaro DL et al. Orphanet J Rare Dis.

Clinical Phenotype and Bone Biopsy Characteristics in a Child with Proteus Syndrome
Al Kaissi A et al. Calcif Tissue Int. 2021 Nov;109(5):586-595

Identification of Compound Heterozygous Variants in LRP4 Demonstrates That a Pathogenic Variant outside the Third β-Propeller Domain Can Cause Sclerosteosis
Huybrechts Y et al. Genes (Basel)

Delineation of the clinical and radiological features of Stuve-Wiedemann syndrome childhood survivors, four new cases and review of the literature
Siccha SM et al. Am J Med Genet A

Inactivating PTH/PTHrP signaling disorders (iPPSDs): evaluation of the new classification in a multicenter large series of 544 molecularly characterized patients
Pereda A et al. Eur J Endocrinol.

Hypercalcemia during pregnancy: management and outcomes for mother and child
Appelman-Dijkstra NM et al. Endocrine.

A child without kneecaps
Baldo F et al. J Paediatr Child Health

Six-year-old boy with a slow-onset persistent back pain
Caddeo G et al. Arch Dis Child Educ Pract Ed

Do Not Simply Pull a Dislocated Finger
Nisticò D et al. J Pediatr

Infectious spondylodiscitis and kyphosis correction in an infant: a case report
Romano S et al. Ital J Pediatr

Patients’ priorities and expectations on an EU registry for rare bone and mineral conditions
Javaid MK et al. Orphanet

Vitamin D-Dependent Rickets Type 1A in Two Siblings with a Hypomorphic CYP27B1 Variant Frequent in the African Population
De Brito Chagas J et al. J Pediatr Genet 2021 Online

Novel Pathogenetic Variants in PTHLH and TRPS1 Genes Causing Syndromic Brachydactyly
Elli FM et al. J Bone Miner Res.

PTH resistance
Mantovani G et al. Mol Cell Endocrinol

Expanding the Phenotype of the FAM149B1-Related Ciliopathy and Identification of Three Neurogenetic Disorders in a Single Family
Siegert S et al. Genes (Basel). 2021 Oct 20;12(11):1648.

How to design a registry for undiagnosed patients in the framework of rare disease diagnosis: suggestions on software, data set and coding system
Berger A et al. Orphanet Journal of Rare Diseases

Hypercalcemia during pregnancy: management and outcomes for mother and child
Appelman-Dijkstra NM et al. Endocrine. 2021 Mar;71(3):604-610.

Mineral and Bone Consequences of High Dose Denosumab Therapy to Treat an Aneurysmal Bone Cyst, a Child Case Report
Del Sindaco G et al. Front Endocrinol (Lausanne)

The Genetics of Atypical Femur Fractures-a Systematic Review
Zhou W et al. Curr Osteoporos Rep.

Cross-sectional analysis: clinical presentation of children with persistently low ALP levels
Semler O et al. J Pediatr Endocrinol Metab. 2021 (online first)

Bone Fractures in Children and Young Adults With Type 1 Diabetes: Age Distribution, Fracture Location, and the Role of Glycemic Control
Eckert AJ et al. J Bone Miner Res 2021 Dec;36(12):2371-2380.

Editorial: New Therapeutic Options for Rare Diseases
Meyer S et al. Front Pediatr 2022 Jan 24;9:832395.

Biochemical assessment of phosphate homeostasis
Houillier P et al. Arch Pediatr.

WNT11, a new gene associated with early-onset osteoporosis, is required for osteoblastogenesis
Silva CC et al. Hum Mol Genet.

A Roadmap to Gene Discoveries and Novel Therapies in Monogenic Low and High Bone Mass Disorders
Formosa MM et al. Front Endocrinol (Lausanne)

Impact of Early Conventional Treatment on Adult Bone and Joints in a Murine Model of X-Linked Hypophosphatemia
Cauliez A et al. Front Cell Dev Biol

Burden of disease and clinical targets in adult patients with X-linked hypophosphatemia. A comprehensive review
Giannini S et al. Osteoporos Int

Lower Limb Deformity and Gait Deviations Among Adolescents and Adults With X-Linked Hypophosphatemia

Mindler GT et al. Front Endocrinol (Lausanne). 2021 Sep 27;12:754084.

Patient-Reported Outcomes from a Randomized, Active-Controlled, Open-Label, Phase 3 Trial of Burosumab Versus Conventional Therapy in Children with X-Linked Hypophosphatemia
Padidela R et al. Calcif Tissue Int. 2021 Jan 23

Oral health-related quality of life in X-linked hypophosphatemia and osteogenesis imperfecta
Gjørup H et al. J Oral Rehabil. 2021 Feb;48(2):160-168.

Defining a growing and maturing skeleton and its relevance in diseases that affect skeletal growth, such as X-linked hypophosphataemia (XLH)
Beck-Nielsen SS et al. Int J Rare Dis Disord. 2021;4:029

X-linked hypophosphatemia and burosumab: Practical clinical points from the French experience
Bacchetta J et al. Joint Bone Spine.

Description of four patients with TRIP11 variants expand the clinical spectrum of odontochondroplasia (ODCD) and demonstrate the existence of common variants
Del Pino M et al. Eur J Med Genet


Biallelic cGMP-dependent type II protein kinase gene ( PRKG2) variants cause a novel acromesomelic dysplasia
Díaz-González F et al. J Med Genet

A Large Skull Defect Due to Gorham-Stout Disease: Case Report and Literature Review on Pathogenesis, Diagnosis, and Treatment
de Keyser CE et al. Front Endocrinol (Lausanne)

Treating hypoparathyroidism with recombinant human parathyroid hormone (1-34): long-term safety concerns
Goujard C et al. Lancet

Hypophosphatasia: Biological and Clinical Aspects, Avenues for Therapy
Salles JP Clin Biochem Rev

Burden of Illness in Adults With Hypophosphatasia: Data From the Global Hypophosphatasia Patient Registry
Seefried L et al. J Bone Miner Res

Homozygous Loss-of-Function Mutations in CCDC134 Are Responsible for a Severe Form of Osteogenesis Imperfecta
Dubail J et al. J Bone Miner Res

Expression of the type 1 lysophosphatidic acid receptor in osteoblastic cell lineage controls both bone mineralization and osteocyte specification
Alioli CA et al. Biochim Biophys Acta Mol Cell Biol Lipids

Ghrelin uses the GHS-R1a/Gi/cAMP pathway and induces differentiation only in mature osteoblasts
Barre R et al. Biochem Biophys Rep

Providing high-quality care remotely to patients with rare bone diseases during COVID-19 pandemic
Brizola E et al. Orphanet J Rare Dis

Demographic Characteristics, Risk Factors, and Presenting Features of Children with Symptomatic Nutritional Rickets: A French Series
Flot C et al. Horm Res Paediatr

Diffuse bone and soft tissue angiomatosis with GNAQ mutation
Gaeta R et al. Pathol Int

Handgrip strength is a comorbidity marker in systemic necrotizing vasculitides and predicts the risk of fracture and serious adverse events
Henriquez S et al. Rheumatology (Oxford)

10th European Conference on Rare Diseases & Orphan Products (ECRD 2020) # (Rare 2030 Foresight Study: Overview and presentation of four Rare 2030 “What If” scenarios)
Macek M et al. Orphanet Journal of Rare Diseases

Vitamin D supplementation: are multivitamins sufficient?
Moon RJ et al. Arch Dis Child

Vitamin D, and Maternal and Child Health
Moon RJ et al. Calcif Tissue Int

The line between COVID-19 pandemic and rare bone diseases
Sangiorgi L et al. Ir J Med Sci

Fracture Risk and Management of Discontinuation of Denosumab Therapy: A Systematic Review and Position Statement by ECTS
Tsourdi E et al. J Clin Endocrinol Metab

Osteoporosis in Premenopausal Women: A Clinical Narrative Review by the ECTS and the IOF
Pepe J et al. J Clin Endocrinol Metab

A multi-omics approach expands the mutational spectrum of MAP2K1-related melorheostosis
De Ridder R et al. Bone

Vertebral Fractures in Individuals With Type 2 Diabetes: More Than Skeletal Complications Alone
Koromani F et al. Diabetes Care

Epiphyseal Cleft: A Misleading Radiologic Finding
Trevisan M et al. J Pediatr

Development of Enthesopathies and Joint Structural Damage in a Murine Model of X-Linked Hypophosphatemia
Faraji-Bellée CA et al. Front Cell Dev Biol

Management of X-linked hypophosphatemia in adults
Lecoq AL et al. Metabolism

Hyperparathyroidism in Patients With X-Linked Hypophosphatemia
Lecoq AL et al. J Bone Miner Res

The International X-Linked Hypophosphataemia (XLH) Registry (NCT03193476): Rationale for and Description of an International, Observational Study
Padidela R et al. Orphanet J Rare Dis


Meeting report from the achondroplasia foramen magnum workshop, Salzburg, Austria 22nd June 2019
Cheung MS et al. Bone

Denosumab in Patients With Fibrous Dysplasia Previously Treated With Bisphosphonates
Majoor BCJ et al. J Clin Endocrinol Metab

Pain in fibrous dysplasia: relationship with anatomical and clinical features
Majoor BCJ et al. Acta Orthop

Clinical and translational pharmacological aspects of the management of fibrous dysplasia of bone
Rotman M et al. Br J Clin Pharmacol

Special considerations for clinical trials in fibrodysplasia ossificans progressiva (FOP)
Hsiao EC et al. Br J Clin Pharmacol

Natural history of fibrodysplasia ossificans progressiva: cross-sectional analysis of annotated baseline phenotypes
Pignolo RJ et al. Orphanet J Rare Dis

Elemental formula associated hypophosphataemic rickets
Uday S et al. Clinical Nutrition

Prevalence and Clinical Features of Mazabraud Syndrome: A Multicenter European Study
Majoor BCJ et al. J Bone Joint Surg Am

Aortic aneurysm/dissection and osteogenesis imperfecta: Four new families and review of the literature
Balasubramanian M et al. Bone

De novo and inherited pathogenic variants in collagen-related osteogenesis imperfecta
Zhytnik L et al. Mol Genet Genomic Med

IFITM5 pathogenic variant causes osteogenesis imperfecta V with various phenotype severity in Ukrainian and Vietnamese patients
Zhytnik L et al. Hum Genomics

COL1A1/2 Pathogenic Variants and Phenotype Characteristics in Ukrainian Osteogenesis Imperfecta Patients
Zhytnik L et al. Front Genet

The homozygous variant c.797G>A/p.(Cys266Tyr) in PISD is associated with a Spondyloepimetaphyseal dysplasia with large epiphyses and disturbed mitochondrial function
Girisha KM et al. Hum Mutat

Genetic diversity and pathogenic variants as possible predictors of severity in a French sample of nonsyndromic heritable thoracic aortic aneurysms and dissections (nshTAAD)
Arnaud P et al. Genet Med

Management of Endocrine Disease: Unmet therapeutic, educational and scientific needs in parathyroid disorders
Bollerslev J et al. Eur J Endocrinol

An emerging ribosomopathy affecting the skeleton due to biallelic variations in NEPRO
Narayanan DL et al. Am J Med Genet A

Continued Beneficial Effects of Burosumab in Adults with X-Linked Hypophosphatemia: Results from a 24-Week Treatment Continuation Period After a 24-Week Double-Blind Placebo-Controlled Period
Portale AA et al. Calcif Tissue Int


Development of body proportions in achondroplasia: Sitting height, leg length, arm span, and foot length
Merker A et al. Am J Med Genet A

Further delineation of Malan syndrome
Priolo M et al. Hum Mutat

A 6-Year Follow-Up of Fracture Incidence and Volumetric Bone Mineral Density Development in Girls With Turner Syndrome
Soucek O et al. J Clin Endocrinol Metab

Growth in achondroplasia: Development of height, weight, head circumference, and body mass index in a European cohort
Merker A et al. Am J Med Genet A

Illness Perceptions are Associated with Quality of Life in Patients with Fibrous Dysplasia
Majoor BCJ et al. Calcif Tissue Int

Individualized approach to the surgical management of fibrous dysplasia of the proximal femur
Majoor BCJ et al. Orphanet J Rare Dis

The FOP Connection Registry: Design of an international patient-sponsored registry for Fibrodysplasia Ossificans Progressiva
Mantick N et al. Bone

Early postnatal soluble FGFR3 therapy prevents the atypical development of obesity in achondroplasia
Saint-Laurent C et al. PLoS One

Endospanin-2 enhances skeletal muscle energy metabolism and running endurance capacity
Lancel S et al. JCI Insight

Passive Coping Strategies Are Associated With More Impairment In Quality Of Life In Patients With Fibrous Dysplasia
Rotman M et al. Calcif Tissue Int

Assessment of the genetic and clinical determinants of fracture risk: genome wide association and mendelian randomisation study
Trajanoska K et al. BMJ

Phosphate wasting disorders in adults
Marcucci G et al. Osteoporos Int

Bi-allelic Loss-of-Function Mutations in the NPR-C Receptor Result in Enhanced Growth and Connective Tissue Abnormalities
Boudin E et al. Am J Hum Genet

Noonan syndrome-causing SHP2 mutants impair ERK-dependent chondrocyte differentiation during endochondral bone growth
Tajan M et al. Hum Mol Genet

Validation of a novel, rapid, high precision sclerostin assay not confounded by sclerostin fragments
Drake MT et al. Bone

ClinGen RASopathy Working Group. ClinGen’s RASopathy Expert Panel consensus methods for variant interpretation
Gelb BD et al. Genet Med

Assessing the gene-disease association of 19 genes with the RASopathies using the ClinGen gene curation framework
Grant AR et al. Hum Mutat

Clinical relevance of systematic phenotyping and exome sequencing in patients with short stature
Hauer NN et al. Genet Med

Early clinical observations on the use of imatinib mesylate in FOP: A report of seven cases
Kaplan FS et al. Bone

Increased Risk of Breast Cancer at a Young Age in Women with Fibrous Dysplasia
Majoor BC et al. J Bone Miner Res

Elucidating the genetic architecture of Adams-Oliver syndrome in a large European cohort
Meester JAN et al. Hum Mutat

Animal models to explore the effects of glucocorticoids on skeletal growth and structure
Wood CL et al. J Endocrinol