Alessandra Maugeri

Extending the global landscape of Bruck syndrome: Case series of Indonesian and Ukrainian patients with PLOD2 pathogenic variants and literature review

Devina Afraditya Paveta, Agustini Utari, Ferdy Kurniawan Cayami, Alessandra Maugeri et autres

Bruck syndrome type 2 (BRKS2) is a rare disorder marked by congenital joint contractures and bone fragility, caused by variants in PLOD2, which encodes lysyl hydroxylase 2 essential for collagen stability. We report the first genetically confirmed BRKS2 cases from Indonesia and …

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Lisa M. van den Bersselaar, Ingrid M.B.H. van de Laar, Marieke J.H. Baars, Annette F. Baas et autres

A Retrospective Multicentre Cohort Study [2].Important considerations are raised with this letter that we would like to address in this response.

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Pregnancy and Delivery Outcomes in Vascular Ehlers–Danlos Syndrome: A Retrospective Multicentre Cohort Study

Lisa M. van den Bersselaar, Ingrid M.B.H. van de Laar, Marieke J.H. Baars, Annette F. Baas et autres

OBJECTIVE: We aim to increase knowledge on pregnancy and delivery risks in vascular Ehlers-Danlos Syndrome (vEDS). Our outcomes can contribute to establishing future guidelines for pregnancy and delivery management in women with vEDS. DESIGN: Retrospective multicentre cohort study. SETTING: Women with vEDS …

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Tenascin-X Deficiency Causing Classical-Like Ehlers-Danlos Syndrome Type 1 in Humans is a Significant Risk Factor of Gastrointestinal and Tracheal Ruptures

Jonneke E. van Gurp, Rosan Lechner, Dimitra Micha, Alessandra Maugeri et autres

INTRODUCTION: Classical-like Ehlers-Danlos syndrome type 1 (clEDS1) is a very rare form of Ehlers-Danlos syndrome caused by tenascin-X deficiency, with only 56 individuals reported in medical literature. Tenascin-X is an extracellular matrix protein needed for collagen stability. Previous publications propose that individuals …

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Large‐ and medium‐sized arterial aneurysms in two patients with SMAD4 ‐related juvenile polyposis syndrome

Wenneke van Weelden, Fonnet E. Bleeker, Diana van Stijn, Dimitra Micha et autres

Germline SMAD4 pathogenic variants (PVs) cause juvenile polyposis syndrome (JPS), which is known for an increased risk of gastrointestinal juvenile polyps and gastrointestinal cancer. Many patients with SMAD4 PV also show signs of hereditary hemorrhagic telangiectasia (HHT) and some patients have aneurysms …

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Vascular Ehlers-Danlos Syndrome: A Comprehensive Natural History Study in a Dutch National Cohort of 142 Patients

Serwet Demirdas, Lisa M. van den Bersselaar, Rosan Lechner, J.D. Bos et autres

BACKGROUND: Vascular Ehlers-Danlos syndrome (vEDS) is a rare connective tissue disorder with a high risk for arterial, bowel, and uterine rupture, caused by heterozygous pathogenic variants in COL3A1 . The aim of this cohort study is to provide further insights into the …

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Expanding the genetic and phenotypic spectrum of ACTA2-related vasculopathies in a Dutch cohort

Lisa M. van den Bersselaar, Judith M. A. Verhagen, Jos A. Bekkers, Marlies J. E. Kempers et autres

Correction to: Genetics in Medicine 2022; https://doi.org/10.1016/j.gim.2022.07.009, published online 2 September 2022. In the article “Expanding the genetic and phenotypic spectrum of ACTA2-related vasculopathies in a Dutch cohort” (Genet Med 2022;24:2112-2122), the following updates were made. On page 2114 (Molecular studies section), …

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Novel pathogenic variants in SPARC as cause of osteogenesis imperfecta: Two case reports

Silvia Storoni, Luca Celli, Lidiia Zhytnik, Katre Maasalu et autres

Pathogenic variants in SPARC cause a rare autosomal recessive form of osteogenesis imperfecta (OI), classified as OI type XVII, which was first reported in 2015. Only six patient cases with this specific form of OI have been reported to date. The SPARC …

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Altered collagen I and premature pulmonary embryonic differentiation in patients with OI type II

Silvia Storoni, Luca Celli, Marjolein Breur, Dimitra Micha et autres

Pulmonary hypoplasia and respiratory failure are primary causes of death in patients with osteogenesis imperfecta (OI) type II. OI is a genetic skeletal disorder caused by pathogenic variants in genes encoding collagen type I. It is still unknown if the collagen defect …

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Medical Care Use Among Patients with Monogenic Osteoporosis Due to Rare Variants in LRP5, PLS3, or WNT1

Sara J. E. Verdonk, Silvia Storoni, Lidiia Zhytnik, Wenchao Zhong et autres

Pathogenic variants in the LRP5, PLS3, or WNT1 genes can significantly affect bone mineral density, causing monogenic osteoporosis. Much remains to be discovered about the phenotype and medical care needs of these patients. The purpose of this study was to examine the …

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Novel Pathogenic Variants in Sparc as Cause of Osteogenesis Imperfecta: Two Case Reports

Silvia Storoni, Luca Celli, Lidiia Zhytnik, Katre Maasalu et autres

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Expanding the genetic and phenotypic spectrum of ACTA2-related vasculopathies in a Dutch cohort

Lisa M. van den Bersselaar, Judith M. A. Verhagen, Jos A. Bekkers, Marlies J. E. Kempers et autres

PURPOSE: Heterozygous pathogenic/likely pathogenic (P/LP) variants in the ACTA2 gene confer a high risk for thoracic aortic aneurysms and aortic dissections. This retrospective multicenter study elucidates the clinical outcome of ACTA2-related vasculopathies. METHODS: Index patients and relatives with a P/LP variant in …

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