European lipodystrophy registry: background and structure

Schnurbein, Julia von; Adams, Claire A.; Akıncı, Barış; Ceccarini, Giovanni; D’Apice, Maria Rosaria; Gambineri, Alessandra; Hennekam, Raoul C. M.; Jéru, Isabelle; Lattanzi, Giovanna; Miehle, Konstanze; Nagel, Gabriële; Novelli, Giuseppe; Santini, Ferruccio; Silva, Ermelinda Santos; Savage, David B.; Sbraccia, Paolo; Schaaf, Jannik; Sorkina, Ekaterina; Tanteles, George A.; Vantyghem, Marie-Christine; Vatier, Camille; Vigouroux, Corinne; Vorona, Elena; Araújo‐Vilar, David; Wabitsch, Martin

doi:10.1186/s13023-020-1295-y

Cited by 24 publications

(14 citation statements)

References 14 publications

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“…We therefore emphasize that it is important to suspect the presence of LMNA mutation in patients with unusual subcutaneous fat distribution to allow for proper diagnosis of milder forms. In this regard, we believe that appropriate disease registries [ 32 ] will be able to improve diagnostics, patient care, and therapeutic choices.…”

Section: Discussionmentioning

confidence: 99%

Partial Lipodystrophy and LMNA p.R545H Variant

Magno

Ceccarini

Barison

et al. 2021

JCM

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Laminopathies are disorders caused by LMNA gene mutations, which selectively affect different tissues and organ systems, and present with heterogeneous clinical and pathological traits. The molecular mechanisms behind these clinical differences and tissue specificity have not been fully clarified. We herein examine the case of a patient carrying a heterozygous LMNA c.1634G>A (p.R545H) variant with a mild, transient myopathy, who was referred to our center for the suspicion of lipodystrophy. At physical examination, an abnormal distribution of subcutaneous fat was noticed, with fat accumulation in the anterior regions of the neck, resembling the fat distribution pattern of familial partial lipodystrophy type 2 (FPLD2). The R545H missense variant has been found at very low allelic frequency in public databases, and in silico analysis showed that this amino acid substitution is predicted to have a damaging role. Other patients carrying the heterozygous LMNA p.R545H allele have shown a marked clinical heterogeneity in terms of phenotypic body fat distribution and severity of organ system involvement. These findings indicate that the LMNA p.R545H heterozygous variant exhibits incomplete penetrance and highly variable expressivity. We hypothesized that additional genetic factors, epigenetic mechanisms, or environmental triggers might explain the variable expressivity of phenotypes among various patients.

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Section: Discussionmentioning

confidence: 99%

Partial Lipodystrophy and LMNA p.R545H Variant

Magno

Ceccarini

Barison

et al. 2021

JCM

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“…We remark that, given the phenotype overlapping among progeroid syndromes, genetic analysis and disease registries [ 34 ] have an important role in characterizing the disease to guide the screening of comorbidities and personalize therapeutic choices.…”

Section: Discussionmentioning

confidence: 99%

Atypical Progeroid Syndrome and Partial Lipodystrophy Due to LMNA Gene p.R349W Mutation

Magno

Ceccarini

Pelosini

et al. 2020

Journal of the Endocrine Society

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Atypical Progeroid Syndrome (APS) are heterogeneous disorders characterized by variable degrees of fat loss, metabolic alterations and comorbidities that affect skeleton, muscles and/or the heart. We describe 3 patients that were referred to our Center for the suspicion of lipodystrophy. They had precocious aging traits such as short stature, mandibular hypoplasia, beaked nose and partial alopecia manifesting around 10-15 years of age recurrently associated with: 1) partial lipodystrophy; 2) proteinuric nephropathy; 3) heart disease (rhythm disorders, valvular abnormalities, and cardiomyopathy); 4) sensorineural hearing impairment. In all patients genetic testing revealed a missense heterozygous LMNA mutation c.1045 C>T (p.Arg349Trp). Ten patients with LMNA p.R349W mutation have been reported so far, all presenting with similar features, which represent the key pathological hallmarks of this subtype of APS. The associated kidney and cardiac complications occurring in the natural history of the disease may reduce life-expectancy. Therefore, in these patients a careful and periodic cardiac and kidney function evaluation is required.

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“…This is a one-direction export functionality (10). Data sharing with the RDW (data copy export only) upon request might be asked for by the European Commission's Joint Research Centre (JRC) of the European Commission in Ispra, Italy (11). Furthermore, to make data semantically interoperable, an ERN-wide Meta Data Repository (MDR) will be established.…”

Section: Conceptmentioning

confidence: 99%

“…OSSE is currently used in various international and national registries, e.g. in the European lipodystrophy registry [11]. OSSE was funded by the German Federal Ministry of Health in context of the National Plan for Rare Diseases in 2013.…”

Section: Using Osse For the Ern-lung Data Warehousementioning

confidence: 99%

The Registry Data Warehouse in the European Reference Network for Rare Respiratory Diseases – Background, Conception and Implementation

Schaaf

Chalmers

Omran

et al. 2021

German Medical Data Sciences: Bringing Data to Life

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Rare lung diseases affect 1.5–3 million people in Europe while causing bad prognosis or early deaths for patients. The European Reference Network for Respiratory Diseases (ERN-Lung) is a patient centric network, funded by the European Union (EU). The aims of ERN-LUNG is to increase healthcare and research regarding rare respiratory diseases. An initial need for cross-border healthcare and research is the use of registries and databases. A typical problem in registries for RDs is the data exchange, since the registries use different kind of data with different types or descriptions. Therefore, ERN-Lung decided to create a new Registry Data-Warehouse (RDW) where different existing registries are connected to enable cross-border healthcare within ERN-Lung. This work facilitates the aims, conception and implementation for the RDW, while considering a semantic interoperability approach. We created a common dataset (CDS) to have a common descriptions of respiratory diseases patients within the ERN registries. We further developed the RDW based on Open Source Registry System for Rare Diseases (OSSE), which includes a Metadata Repository with the Samply.MDR to unique describe data for the minimal dataset. Within the RDW, data from existing registries is not stored in a central database. The RDW uses the approach of the “Decentral Search” and can send requests to the connected registries, whereas only aggregated data is returned about how many patients with specific characteristics are available. However, further work is needed to connect the different existing registries to the RDW and to perform first studies.

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European lipodystrophy registry: background and structure

Cited by 24 publications

References 14 publications

Partial Lipodystrophy and LMNA p.R545H Variant

Partial Lipodystrophy and LMNA p.R545H Variant

Atypical Progeroid Syndrome and Partial Lipodystrophy Due to LMNA Gene p.R349W Mutation

The Registry Data Warehouse in the European Reference Network for Rare Respiratory Diseases – Background, Conception and Implementation

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