Nollet, Lukas Campens, Laurence De Zaeytijd, Julie Leroy, Bart Hemelsoet, Dimitri Coucke, Paul J Vanakker, Olivier M
Published in
Journal of medical genetics
Biallelic pathogenic variants in the ATP-binding cassette subfamily C member 6 (ABCC6) gene cause pseudoxanthoma elasticum, a multisystemic ectopic calcification disorder, while heterozygous ABCC6 variants are associated with an increased risk of cardiovascular and cerebrovascular disease. As the prevalence of pathogenic ABCC6 variants in the gener...
Holling, Tess; Bhavani, Gandham S; von Elsner, Leonie; Shah, Hitesh; Kausthubham, Neethukrishna; Bhattacharyya, Shaila S; Shukla, Anju; Mortier, Geert R; 151953; Schinke, Thorsten; Danyukova, Tatyana;
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BNIP1 (BCL2 interacting protein 1) is a soluble N-ethylmaleimide-sensitive factor-attachment protein receptor involved in ER membrane fusion. We identified the homozygous BNIP1 intronic variant c.84+3A>T in the apparently unrelated patients 1 and 2 with disproportionate short stature. Radiographs showed abnormalities affecting both the axial and ap...
Cirnigliaro, Lara; Bianchi, Paolo; Sturiale, Luisa; Garozzo, Domenico; Mangili, Giovanna; Keldermans, Liesbeth; Rizzo, Renata; Matthijs, Gert; 9354; Fiumara, Agata; Jaeken, Jaak; 14238;
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BACKGROUND: Deficiency of Conserved Oligomeric Golgi (COG) subunits (COG1-8) is characterized by both N- and O-protein glycosylation defects associated with destabilization and mislocalization of Golgi glycosylation machinery components (COG-CDG). Patients with COG defects present with neurological and multisystem involvement and possible malformat...
de Boer, Rudolf A; Heymans, Stephane; 11145; Backs, Johannes; Carrier, Lucie; Coats, Andrew JS; Dimmeler, Stefanie; Eschenhagen, Thomas; Filippatos, Gerasimos; Gepstein, Lior; Hulot, Jean-Sebastien;
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Genetic cardiomyopathies are disorders of the cardiac muscle, most often explained by pathogenic mutations in genes encoding sarcomere, cytoskeleton, or ion channel proteins. Clinical phenotypes such as heart failure and arrhythmia are classically treated with generic drugs, but aetiology-specific and targeted treatments are lacking. As a result, c...
Koster, R. Brandão, R. D. Tserpelis, D. van Roozendaal, C. E. P. van Oosterhoud, C. N. Claes, K. B. M. Paulussen, A. D. C. Sinnema, M. Vreeburg, M. van der Schoot, V.
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Published in
npj Genomic Medicine
Neurofibromatosis type 1 (NF1) is caused by loss-of-function variants in the NF1 gene. Approximately 10% of these variants affect RNA splicing and are either missed by conventional DNA diagnostics or are misinterpreted by in silico splicing predictions. Therefore, a targeted RNAseq-based approach was designed to detect pathogenic RNA splicing and a...
Cordier, Fleur Hoorens, Anne Van Dorpe, Jo Creytens, David
Differential diagnosis of pediatric vascular liver tumors can be challenging due to inconsistent nomenclature, histologic overlap and the rarity of some entities. Here we give an up-to-date overview of the most important entities. We discuss the clinic, histology and pathophysiology of hepatic congenital and infantile heman gioma, hepatic epithelio...
Xue, Jing-Yi Grigelioniene, Giedre Wang, Zheng Nishimura, Gen Iida, Aritoshi Matsumoto, Naomichi Tham, Emma Miyake, Noriko Ikegawa, Shiro Guo, Long
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Published in
Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research
Osteopetrosis is a group of rare inherited skeletal disorders characterized by a marked increase in bone density due to deficient bone resorption. Pathogenic variants in several genes involved in osteoclast differentiation and/or function have been reported to cause osteopetrosis. Solute carrier family 4 member 2 (SLC4A2, encoding anion exchanger 2...
De Zaeytijd, Julie Coppieters, Frauke De Bruyne, Marieke Van Royen, Jasper Roels, Dimitri Six, Rani Van Cauwenbergh, Caroline De Baere, Elfride Leroy, Bart P
Published in
Ophthalmic genetics
Background: Late-onset retinal degeneration (L-ORD) is a rare autosomal dominant retinal dystrophy related to C1QTNF5 gene variants.Materials and methods: Twenty-six patients (21-81 years) with L-ORD due to c.562C>A p.(Pro188Thr) with a mean follow-up time of 8 years (range 1-37 years) underwent an extensive ophthalmic work-up.Results: Best-correct...
Huttener, Raf; Thorrez, Lieven; 34791; in't Veld, Thomas; Potter, Barney; 140913; Baele, Guy; 75702; Granvik, Mikaela; Van Lommel, Leentje; Schuit, Frans; 40728;
BACKGROUND: Different types of proteins diverge at vastly different rates. Moreover, the same type of protein has been observed to evolve with different rates in different phylogenetic lineages. In the present study we measured the rates of protein evolution in Eutheria (placental mammals) and Metatheria (marsupials) on a genome-wide basis and we p...
Maude, H Lau, W Maniatis, N Andrew, T
This study investigated the potential genetic mechanisms which underlie adipose tissue mitochondrial dysfunction in Type 2 diabetes (T2D), by systematically identifying nuclear-encoded mitochondrial genes (NEMGs) among the genes regulated by T2D-associated genetic loci. The target genes of these ‘disease loci’ were identified by mapping genetic loc...
