Search results for: Sarah Vergult

Items from 1 to 13 out of 13 results

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Phenotypic spectrum of the RBM10‐mediated intellectual disability and congenital malformation syndrome beyond classic TARP syndrome features

Candy Kumps, Erika D'haenens, Sarah Vergult, Jasmine Leus, more

Pathogenic variants in the RBM10 gene cause a rare X‐linked disorder described as TARP (Talipes equinovarus, Atrial septal defect, Robin sequence, and Persistent left vena cava superior) syndrome. We report two novel patients with truncating RBM10 variants in view of the literature, presenting a total of 26 patients from 15 unrelated families. Our results illustrate the highly pleiotropic nature of...

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Expanding the molecular spectrum and the neurological phenotype related to CAMTA1 variants

Eva Z. Jacobs, Kathleen Brown, Melissa C. Byler, Erika D'haenens, more

Clinical Genetics > 99 > 2 > 259 - 268

The CAMTA1‐associated phenotype was initially defined in patients with intragenic deletions and duplications who showed nonprogressive congenital ataxia, with or without intellectual disability. Here, we describe 10 individuals with CAMTA1 variants: nine previously unreported (likely) pathogenic variants comprising one missense, four frameshift and four nonsense variants, and one missense variant...

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Severe hepatopathy and neurological deterioration after start of valproate treatment in a 6-year-old child with mitochondrial tryptophanyl-tRNA synthetase deficiency

Elise Vantroys, Joél Smet, Arnaud V. Vanlander, Sarah Vergult, more

Orphanet Journal of Rare Diseases > 2018 > 13 > 1 > 1-9

Background The first subjects with deficiency of mitochondrial tryptophanyl-tRNA synthetase (WARS2) were reported in 2017. Their clinical characteristics can be subdivided into three phenotypes (neonatal phenotype, severe infantile onset phenotype, Parkinson-like phenotype). Results Here, we report on a subject who presented with early developmental delay, motor weakness and intellectual disability...

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New insights into the phenotype of FARS2 deficiency

Elise Vantroys, Austin Larson, Marisa Friederich, Kaz Knight, more

Molecular Genetics and Metabolism > 2017 > 122 > 4 > 172-181

Mutations in FARS2 are known to cause dysfunction of mitochondrial translation due to deficient aminoacylation of the mitochondrial phenylalanine tRNA. Here, we report three novel mutations in FARS2 found in two patients in a compound heterozygous state. The missense mutation c.1082C>T (p.Pro361Leu) was detected in both patients. The mutations c.461C>T (p.Ala154Val) and c.521_523delTGG (p.Val174del)...

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Isolated and Syndromic Retinal Dystrophy Caused by Biallelic Mutations in RCBTB1, a Gene Implicated in Ubiquitination

Frauke Coppieters, Giulia Ascari, Katharina Dannhausen, Konstantinos Nikopoulos, more

The American Journal of Human Genetics > 2016 > 99 > 2 > 470-480

Inherited retinal dystrophies (iRDs) are a group of genetically and clinically heterogeneous conditions resulting from mutations in over 250 genes. Here, homozygosity mapping and whole-exome sequencing (WES) in a consanguineous family revealed a homozygous missense mutation, c.973C>T (p.His325Tyr), in RCBTB1. In affected individuals, it was found to segregate with retinitis pigmentosa (RP), goiter,...

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Two Siblings with Homozygous Pathogenic Splice‐Site Variant in Mitochondrial Asparaginyl–tRNA Synthetase (NARS2)

Arnaud V. Vanlander, Björn Menten, Joél Smet, Linda De Meirleir, more

Human Mutation > 36 > 2 > 222 - 231

A homozygous missense mutation (c.822G>C) was found in the gene encoding the mitochondrial asparaginyl–tRNA synthetase (NARS2) in two siblings born to consanguineous parents. These siblings presented with different phenotypes: one had mild intellectual disability and epilepsy in childhood, whereas the other had severe myopathy. Biochemical analysis of the oxidative phosphorylation (OXPHOS) complexes...

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Mutations Affecting the SAND Domain of DEAF1 Cause Intellectual Disability with Severe Speech Impairment and Behavioral Problems

Anneke T. Vulto-van Silfhout, Shivakumar Rajamanickam, Philip J. Jensik, Sarah Vergult, more

The American Journal of Human Genetics > 2015 > 96 > 1 > 178

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Genomic and Functional Overlap between Somatic and Germline Chromosomal Rearrangements

Sebastiaan van Heesch, Marieke Simonis, Markus J. van Roosmalen, Vamsee Pillalamarri, more

Cell Reports > 2014 > 9 > 6 > 2001-2010

Genomic rearrangements are a common cause of human congenital abnormalities. However, their origin and consequences are poorly understood. We performed molecular analysis of two patients with congenital disease who carried de novo genomic rearrangements. We found that the rearrangements in both patients hit genes that are recurrently rearranged in cancer (ETV1, FOXP1, and microRNA cluster C19MC) and...

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Mutations Affecting the SAND Domain of DEAF1 Cause Intellectual Disability with Severe Speech Impairment and Behavioral Problems

Anneke T. Vulto-van Silfhout, Shivakumar Rajamanickam, Philip J. Jensik, Sarah Vergult, more

The American Journal of Human Genetics > 2014 > 94 > 5 > 649-661

Recently, we identified in two individuals with intellectual disability (ID) different de novo mutations in DEAF1, which encodes a transcription factor with an important role in embryonic development. To ascertain whether these mutations in DEAF1 are causative for the ID phenotype, we performed targeted resequencing of DEAF1 in an additional cohort of over 2,300 individuals with unexplained ID and...

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Exonic Deletions in AUTS2 Cause a Syndromic Form of Intellectual Disability and Suggest a Critical Role for the C Terminus

Gea Beunders, Els Voorhoeve, Christelle Golzio, Luba M. Pardo, more

The American Journal of Human Genetics > 2013 > 92 > 2 > 210-220

Genomic rearrangements involving AUTS2 (7q11.22) are associated with autism and intellectual disability (ID), although evidence for causality is limited. By combining the results of diagnostic testing of 49,684 individuals, we identified 24 microdeletions that affect at least one exon of AUTS2, as well as one translocation and one inversion each with a breakpoint within the AUTS2 locus. Comparison...

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Constitutional Chromothripsis Rearrangements Involve Clustered Double-Stranded DNA Breaks and Nonhomologous Repair Mechanisms

Wigard P. Kloosterman, Masoumeh Tavakoli-Yaraki, Markus J. van Roosmalen, Ellen van Binsbergen, more

Cell Reports > 2012 > 1 > 6 > 648-655

Chromothripsis represents a novel phenomenon in the structural variation landscape of cancer genomes. Here, we analyze the genomes of ten patients with congenital disease who were preselected to carry complex chromosomal rearrangements with more than two breakpoints. The rearrangements displayed unanticipated complexity resembling chromothripsis. We find that eight of them contain hallmarks of multiple...

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Identification of a novel recurrent 1q42.2‐1qter deletion in high risk MYCN single copy 11q deleted neuroblastomas

Annelies Fieuw, Candy Kumps, Alexander Schramm, Filip Pattyn, more

International Journal of Cancer > 130 > 11 > 2599 - 2606

Neuroblastoma is an aggressive embryonal tumor that accounts for ∼15% of childhood cancer deaths. Hitherto, despite the availability of comprehensive genomic data on DNA copy number changes in neuroblastoma, relatively little is known about the genes driving neuroblastoma tumorigenesis. In this study, high resolution array comparative genome hybridization (CGH) was performed on 188 primary neuroblastoma...

article

Giant axonal neuropathy caused by compound heterozygosity for a maternally inherited microdeletion and a paternal mutation within the GAN gene

Karen Buysse, Sarah Vergult, Silke Mussche, Chantal Ceuterick‐de Groote, more

American Journal of Medical Genetics Part C: Seminars in Medical Genetics > 152A > 11 > 2802 - 2804

Different missense, nonsense and frameshift mutations in the GAN gene encoding gigaxonin have been described to cause giant axonal neuropathy, a severe early‐onset progressive neurological disease with autosomal recessive inheritance. By oligonucleotide array CGH analysis, we identified a 57–131 kb microdeletion affecting this gene in a patient with developmental delay, ataxia, areflexia, macrocephaly,...

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