Comprehensive molecular analysis demonstrates type V collagen mutations in over 90% of patients with classic EDS and allows to refine diagnostic criteria

Sofie Symoens, Delfien Syx, Fransiska Malfait, +5

Human Mutation

GeneticsPathologyDisease Gene IdentificationDermatologyOrthopaedic Surgery +14

Defective Initiation of Glycosaminoglycan Synthesis due to B3GALT6 Mutations Causes a Pleiotropic Ehlers-Danlos-Syndrome-like Connective Tissue Disorder

Fransiska Malfait, Ariana Kariminejad, Tim Van Damme, +13

The American Journal of Human Genetics

Glycosaminoglycan SynthesisAutoimmune DiseaseDefective InitiationDisease MechanismMendelian Disorder +12

Musculocontractural Ehlers-Danlos Syndrome (former EDS type VIB) and adducted thumb clubfoot syndrome (ATCS) represent a single clinical entity caused by mutations in the dermatan-4-sulfotransferase 1 encoding CHST14 gene

Fransiska Malfait, Delfien Syx, Philip Vlummens, +5

Human Mutation

Eds Vib PhenotypeGeneticsThumb Clubfoot SyndromeGenetic EpidemiologyPathology +17

Mutations in ATP6V1E1 or ATP6V1A Cause Autosomal-Recessive Cutis Laxa

Tim Van Damme, Thatjana Gardeitchik, Miski Mohamed, +37

The American Journal of Human Genetics

Genetic DisorderGeneticsPathogenesisMolecular GeneticsDisease Gene Identification +1

Hypermobility, the Ehlers-Danlos syndromes and chronic pain.

Delfien Syx, Inge De Wandele, Lies Rombaut, +1

PubMed

Pain DisordersPain MedicinePathologyDisease Gene IdentificationPain Diagnosis +16

Type III collagen affects dermal and vascular collagen fibrillogenesis and tissue integrity in a mutant Col3a1 transgenic mouse model

Sanne D’hondt, Brecht Guillemyn, Delfien Syx, +12

Matrix Biology

FibrosisDevelopmental BiologyTissue IntegrityPathologyVascular Collagen Fibrillogenesis +6

Mutations in PLOD3, encoding lysyl hydroxylase 3, cause a complex connective tissue disorder including recessive dystrophic epidermolysis bullosa-like blistering phenotype with abnormal anchoring fibrils and type VII collagen deficiency

Hassan Vahidnezhad, Leila Youssefian, Amir Hossein Saeidian, +18

Matrix Biology

Mendelian DisorderGenetic DisorderLysyl Hydroxylase 3PathologyDermatology +3

Identity-by-descent–guided mutation analysis and exome sequencing in consanguineous families reveals unusual clinical and molecular findings in retinal dystrophy

Frauke Coppieters, Kristof Van Schil, Miriam Bauwens, +12

Genetics in Medicine

Identity-by-descent–guided Mutation AnalysisRetinal DystrophyOphthalmologyGenetic DisorderExome Sequencing +4

The RIN2 syndrome: a new autosomal recessive connective tissue disorder caused by deficiency of Ras and Rab interactor 2 (RIN2)

Delfien Syx, Fransiska Malfait, Lut Van Laer, +6

Human Genetics

Rin2 SyndromeAutoimmune DiseaseGenetic DisorderGeneticsPathology +4

Identification of binding partners interacting with the α1-N-propeptide of type V collagen

Sofie Symoens, Marjolijn Renard, Christelle Bonod‐Bidaud, +9

Biochemical Journal

Cell AdhesionCollagen BiosynthesisMolecular BiologyMatrix BiologyProteomics +15