Dorien Lugtenberg
Radboud University Nijmegen
Molecular biologyMutationGeneticsBioinformaticsBiology
What is this?
Publications 50
#1Roos M. Smits (Radboud University Nijmegen)H-Index: 2
#2Manon S. Oud (Radboud University Nijmegen)H-Index: 2
Last. K.W.M. D'Hauwers (Radboud University Nijmegen)H-Index: 10
view all 8 authors...
Abstract Research Question Congenital bilateral absence of vas deferens (CBAVD) is characterized by ‘obstructive azoospermia’ in males with primary infertility. In routine clinical work-up of infertile men, patients with absence of vas deferens are screened for CFTR variants. However, current genetic testing panels do not cover all variants, missing some CBAVD cases. We explored CFTR testing by targeted next-generation sequencing (NGS) to improve variant detection. Design We identified five case...
#1Ilse M. Rood (Radboud University Nijmegen)H-Index: 5
#2Jeroen K. J. Deegens (Radboud University Nijmegen)H-Index: 19
Last. Jack F.M. Wetzels (Radboud University Nijmegen)H-Index: 57
view all 5 authors...
Mutations in the NPHS2 gene, which encodes the podocyte slit diaphragm protein podocin, cause autosomal recessive steroid-resistant nephrotic syndrome (Online Mendelian Inheritance in Man [OMIM] #600995). Basic research and clinical studies have provided important insights about genotype-phenotype correlations. This knowledge allows personalized genetic (risk) counseling and should lead to changes in the advice given to patients. A patient who carries the R229Q variant (which has a high allele f...
2 CitationsSource
#1Esmee H. Runhart (Radboud University Nijmegen)H-Index: 3
#2Riccardo Sangermano (Radboud University Nijmegen)H-Index: 8
Last. Frans P.M. Cremers (Radboud University Nijmegen)H-Index: 70
view all 19 authors...
textabstractPURPOSE. To assess the occurrence and the disease expression of the common p.Asn1868Ile variant in patients with Stargardt disease (STGD1) harboring known, monoallelic causal ABCA4 variants. METHODS. The coding and noncoding regions of ABCA4 were sequenced in 67 and 63 STGD1 probands respectively, harboring monoallelic ABCA4 variants. In case p.Asn1868Ile was detected, segregation analysis was performed whenever possible. Probands and affected siblings harboring p.Asn1868Ile without ...
12 CitationsSource
#1Jorik M. van Rijn (UU: Utrecht University)H-Index: 3
#2Rico Chandra Ardy (Austrian Academy of Sciences)H-Index: 4
Last. Kaan BoztugH-Index: 31
view all 38 authors...
Background & Aims Congenital diarrheal disorders are rare inherited intestinal disorders characterized by intractable, sometimes life-threatening, diarrhea and nutrient malabsorption; some have been associated with mutations in diacylglycerol-acyltransferase 1 ( DGAT1 ), which catalyzes formation of triacylglycerol from diacylglycerol and acyl-CoA. We investigated the mechanisms by which DGAT1 deficiency contributes to intestinal failure using patient-derived organoids. Methods We collected bloo...
10 CitationsSource
#1Machteld M. Oud (Radboud University Nijmegen)H-Index: 9
#2Brooke Latour (Radboud University Nijmegen)H-Index: 2
Last. Ernie M.H.F. Bongers (Radboud University Nijmegen)H-Index: 33
view all 11 authors...
Background Mainzer–Saldino syndrome (MZSDS) is a skeletal ciliopathy and part of the short-rib thoracic dysplasia (SRTD) group of ciliary disorders. The main characteristics of MZSDS are short limbs, mild narrow thorax, blindness, and renal failure. Thus far, variants in two genes are associated with MZSDS: IFT140, and IFT172. In this study, we describe a 1-year-old girl presenting with mild skeletal abnormalities, Leber congenital amaurosis, and bilateral hearing difficulties. For establishing ...
2 CitationsSource
#1Riccardo Sangermano (Radboud University Nijmegen)H-Index: 8
#2Mubeen Khan (CUI: COMSATS Institute of Information Technology)H-Index: 5
Last. Frans P.M. Cremers (Radboud University Nijmegen)H-Index: 70
view all 12 authors...
26 CitationsSource
#1Chae Syng Lee (McGill University)H-Index: 1
#2He Fu (Centre Hospitalier Universitaire Sainte-Justine)H-Index: 3
Last. Philippe M. Campeau (Centre Hospitalier Universitaire Sainte-Justine)H-Index: 29
view all 33 authors...
Fibronectin is a master organizer of extracellular matrices (ECMs) and promotes the assembly of collagens, fibrillin-1, and other proteins. It is also known to play roles in skeletal tissues through its secretion by osteoblasts, chondrocytes, and mesenchymal cells. Spondylometaphyseal dysplasias (SMDs) comprise a diverse group of skeletal dysplasias and often manifest as short stature, growth-plate irregularities, and vertebral anomalies, such as scoliosis. By comparing the exomes of individuals...
6 CitationsSource
#1Mahdi SalihH-Index: 10
#2Ivan Gautschi (UNIL: University of Lausanne)H-Index: 23
Last. Ewout J. HoornH-Index: 34
view all 8 authors...
Liddle syndrome is an autosomal dominant form of hypokalemic hypertension due to mutations in the β - or γ -subunit of the epithelial sodium channel (ENaC). Here, we describe a family with Liddle syndrome due to a mutation in α ENaC. The proband was referred because of resistant hypokalemic hypertension, suppressed renin and aldosterone, and no mutations in the genes encoding β - or γ ENaC. Exome sequencing revealed a heterozygous, nonconservative T>C single-nucleotide mutation in α ENaC that su...
12 CitationsSource
#1Manon S. OudH-Index: 2
#2Liliana RamosH-Index: 21
Last. Michiel J. NoordamH-Index: 1
view all 18 authors...
Microdeletions of the Y chromosome (YCMs), Klinefelter syndrome (47,XXY), and CFTR mutations are known genetic causes of severe male infertility, but the majority of cases remain idiopathic. Here, we describe a novel method using single molecule Molecular Inversion Probes (smMIPs), to screen infertile men for mutations and copy number variations affecting known disease genes. We designed a set of 4,525 smMIPs targeting the coding regions of causal (n = 6) and candidate (n = 101) male infertility...
11 CitationsSource