Search

Your search keyword '"Sander, B."' showing total 6 results
Start Over Author "Sander, B." Journal american journal of human genetics
6 results on '"Sander, B."'

1. PRPS1 mutations: four distinct syndromes and potential treatment

Author

de Brouwer, Arjan P.M., Bokhoven, Hans van, Nabuurs, Sander B., Arts, Willem Frans, Christodoulou, John, and Duley, John

Subjects
Charcot-Marie-Tooth disease -- Genetic aspects, Gene mutations -- Analysis, Purines -- Chemical properties, Pyrophosphates -- Chemical properties, Transferases -- Chemical properties, Biological sciences
Abstract

The missense mutations in phosphoribosylpyrophosphate synthetase 1 (PRPS1) which result in PRS-1 superactivity or in variable levels of decreased activity that lead to X-linked Charcot-Marie-Tooth disease-5 (CMTX5), arts syndrome, and X-linked nonsyndromic sensorineural deafness (DFN2) are described. The neurological phenotype observed in all four PRPS1-related disorders which appears to result primarily from reduced levels of GTP and possibly other purine nucleotides including ATP, indicated that these disorders belong to the same disease spectrum.

Published
2010

2. Homozygosity mapping reveals PDE6C mutations in patients with early-onset cone photoreceptor disorders

Author

Thiadens, Alberta A.H.J., den Hollander, Anneke I., Roosing, Susanne, Nabuurs, Sander B., Zekveld-Vroon, Renate C., Collin, Rob W.J., De Baere, Elfride, Koenekoop, Robert K., van Schooneveld, Mary J., Strom, Tim M., van Lith-Verhoeven, Janneke J.C., Lotery, Andrew J., van Moll-Ramirez, Norka, van den Born, L. Ingeborgh, Hoyng, Carel B., Leroy, Bart P., Cremers, Frans P.M., and Klaver, Caroline C.W.

Subjects
Chromosome mapping -- Usage, Gene mutations -- Analysis, Photoreceptors -- Genetic aspects, Photoreceptors -- Research, Retinitis pigmentosa -- Genetic aspects, Biological sciences
Abstract

A genome-wide homozygosity mapping study is conducted to identify genes that cause cone dystrophy (CD) and achromatopsia (ACHM), which are constituents of early-onset cone photoreceptor disorders in humans. Results reveal that mutations in the PDE6C gene cause the diseases associated with early-onset photoreceptor disorders.

Published
2009

3. Basal laminar drusen caused by compound heterozygous variants in the CFH gene

Author

Boon, Camiel J.F., Klevering, B. Jeroen, Hoyng, Carel B., Zonneveld-Vrieling, Marijke N., Nabuurs, Sander B., Blokland, Ellen, Cremers, Frans P.M., and Den Hollander, Anneke I.

Subjects
Antisense DNA -- Research, Antisense DNA -- Structure, Heterozygosis -- Research, Heterozygosis -- Genetic aspects, Biological sciences
Abstract

The impact of the complement factor H (CFH) gene in different families with early-onset drusen and identified nonsense and missense variants is discussed. The results show that the CFH heterozygous variants lead to basal laminar drusen in young adults, resulting in the loss of vision in the later stages of their lives.

Published
2008

4. Arts syndrome is caused by loss-of-function mutations in PRPS1

Author

de Brouwer, Arjan P.M., Williams, Kelly L., Duley, John A., van Kuilenburg, Andre B.P., Nabuurs, Sander B., Egmont-Peterson, Michael, Lugtenberg, Dorien, Zoetekouw, Lida, Banning, Martijn J.G., Roeffen, Melissa, Hamel, Ben C.J., Weaving, Linda, Ouvrier, Robert A., Donald, Jennifer A., Christodoulou, John, Wevers, Ron A., and van Bokhoven, Hans

Subjects
Gene mutations -- Research, Pyrophosphates -- Research, Biological sciences
Abstract

The article highlights that phosphoribosyl pyrophosphate synthetase 1 gene loss-of-function mutations cause arts syndrome.

Published
2007

5. ZNF674: a new Kruppel-associated box-containing zinc-finger gene involved in nonsyndromic x-linked mental retardation

Author

Lugtenberg, Dorien, Yntema, Helger G., Banning, Martijn J.G., Oudakker, Astrid R., Firth, Helen V., Willatt, Lionel, Raynaud, Martine, Kleefstra, Tjitske, Fryns, Jean-Pierre, Ropers, Hans-Hilger, Chelly, Jamel, Moraine, Claude, Gecz, Jozef, van Reeuwijk, Jeroen, Nabuurs, Sander B., de Vries, Bert B.A., Hamel, Ben C.J., de Brouwer, Arjan P.M., and van Bokhoven, Hans

Subjects
Biological sciences
Published
2006

6. Homozygosity mapping reveals PDE6C mutations in patients with early-onset cone photoreceptor disorders

Author

Bart P. Leroy, Caroline C W Klaver, Janneke J.C. van Lith-Verhoeven, Carel B. Hoyng, Norka van Moll-Ramirez, Susanne Roosing, Renate C. Zekveld-Vroon, Frans P.M. Cremers, Elfride De Baere, Tim M. Strom, Anneke I. den Hollander, Andrew J. Lotery, L. Ingeborgh van den Born, Rob W.J. Collin, Sander B. Nabuurs, Mary J. van Schooneveld, Alberta A H J Thiadens, Robert K. Koenekoop, Ophthalmology, Netherlands Institute for Neuroscience (NIN), and AII - Amsterdam institute for Infection and Immunity

Subjects
Male, Achromatopsia, Genetics and epigenetic pathways of disease [NCMLS 6], Color Vision Defects, Compound heterozygosity, medicine.disease_cause, Consanguinity, 0302 clinical medicine, Missense mutation, Genetics(clinical), Frameshift Mutation, Genetics (clinical), Genetics, 0303 health sciences, GNAT2, Mutation, Homozygote, Chromosome Mapping, Middle Aged, Disease gene identification, Pedigree, Retinal Cone Photoreceptor Cells, Female, Chemical and physical biology [NCMLS 7], Molecular Sequence Data, Mutation, Missense, Genes, Recessive, Biology, Polymorphism, Single Nucleotide, Frameshift mutation, Genomic disorders and inherited multi-system disorders [IGMD 3], 03 medical and health sciences, Gene mapping, Report, Electroretinography, medicine, Humans, Eye Proteins, 030304 developmental biology, Cyclic Nucleotide Phosphodiesterases, Type 6, Base Sequence, Chromosomes, Human, Pair 10, medicine.disease, Evaluation of complex medical interventions [NCEBP 2], Case-Control Studies, 030221 ophthalmology & optometry, sense organs, Genome-Wide Association Study
Abstract

Contains fulltext : 80462.pdf (Publisher’s version ) (Closed access) Cone photoreceptor disorders form a clinical spectrum of diseases that include progressive cone dystrophy (CD) and complete and incomplete achromatopsia (ACHM). The underlying disease mechanisms of autosomal recessive (ar)CD are largely unknown. Our aim was to identify causative genes for these disorders by genome-wide homozygosity mapping. We investigated 75 ACHM, 97 arCD, and 20 early-onset arCD probands and excluded the involvement of known genes for ACHM and arCD. Subsequently, we performed high-resolution SNP analysis and identified large homozygous regions spanning the PDE6C gene in one sibling pair with early-onset arCD and one sibling pair with incomplete ACHM. The PDE6C gene encodes the cone alpha subunit of cyclic guanosine monophosphate (cGMP) phosphodiesterase, which converts cGMP to 5'-GMP, and thereby plays an essential role in cone phototransduction. Sequence analysis of the coding region of PDE6C revealed homozygous missense mutations (p.R29W, p.Y323N) in both sibling pairs. Sequence analysis of 104 probands with arCD and 10 probands with ACHM revealed compound heterozygous PDE6C mutations in three complete ACHM patients from two families. One patient had a frameshift mutation and a splice defect; the other two had a splice defect and a missense variant (p.M455V). Cross-sectional retinal imaging via optical coherence tomography revealed a more pronounced absence of cone photoreceptors in patients with ACHM compared to patients with early-onset arCD. Our findings identify PDE6C as a gene for cone photoreceptor disorders and show that arCD and ACHM constitute genetically and clinically overlapping phenotypes.

Published
2009

Catalog

Books, media, physical & digital resources
See catalog results