Maartje Pennings

NKX2 ‐1 Downstream Regulatory Structural Variants Explain a Substantial Proportion of Molecular Diagnoses in Patients With Benign Hereditary Chorea

Robin Wijngaard, Lucía Dougherty‐de Miguel, German M. Demidov, Galuh Astuti et autres

BACKGROUND: NKX2-1-related disorders (NKX2-1-RDs) classically present with a triad of neurological, endocrine, and pulmonary manifestations, including benign hereditary chorea. However, in a fraction of patients, NKX2-1 coding variants are not detected, and variants outside the NKX2-1 locus have been reported. OBJECTIVE: The …

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Clinical, Genetic, and Imaging Characteristics of SCA27B : Insights from a Large Dutch Cohort

Teije H. van Prooije, Maartje Pennings, Roderick P.P.W.M. Maas, J. de Vries et autres

BACKGROUND: Deep intronic GAA repeat expansions in intron 1 of the FGF14 gene were identified in 2023 as cause of late-onset cerebellar ataxia. Since then, GAA-FGF14-related ataxia (SCA27B) has emerged as one of the most common genetic causes of late-onset cerebellar ataxia. …

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Interrupted CTG repeats in the 37–43 units size range in the 3ʹUTR of DMPK are common alleles

Hilde L. Swinkels, Maike Leferink, Maartje Pennings, Bart P. G. H. van der Sanden et autres

The size of non-pathogenic CTG repeats in the 3'UTR of the DMPK gene varies from 5-35, whereas repeats over 50 units are pathogenic. The Intermediate repeats of 36-50 are considered 'premutation', as they are present in individuals unaffected by myotonic dystrophy, but …

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Optical genome mapping enables accurate testing of large repeat expansions

Bart P. G. H. van der Sanden, Kornelia Neveling, Syukri Shukor, Michael D. Gallagher et autres

Short tandem repeats (STRs) are common variations in human genomes that frequently expand or contract, causing genetic disorders, mainly when expanded. Traditional diagnostic methods for identifying these expansions, such as repeat-primed PCR and Southern blotting, are often labor-intensive, locus-specific, and are unable …

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Characterizing tandem repeat complexities across long-read sequencing platforms with TREAT and otter

Niccoló Tesi, Alex Salazar, Yaran Zhang, Sven J. van der Lee et autres

Tandem repeats (TRs) play important roles in genomic variation and disease risk in humans. Long-read sequencing allows for the accurate characterization of TRs; however, the underlying bioinformatics perspectives remain challenging. We present otter and TREAT: otter is a fast targeted local assembler, …

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Uncovering recessive alleles in rare Mendelian disorders by genome sequencing of 174 individuals with monoallelic pathogenic variants

Gaby Schobers, Maartje Pennings, Juliette de Vries, Michael P. Kwint et autres

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A New Case Series Suggests That SCA48 (ATX/STUB1) Is Primarily a Monogenic Disorder

Teije H. van Prooije, Maartje Pennings, Lucille D.A. Dorresteijn, Thatjana Gardeitchik et autres

Abstract Background Monoallelic, pathogenic STUB1 variants cause autosomal dominant cerebellar ataxia (ATX‐ STUB1 /SCA48). Recently, a genetic interaction between STUB1 variants and intermediate or high‐normal CAG/CAA repeats in TBP was suggested, indicating digenic inheritance or a disease‐modifying role for TBP expansions. Objective …

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Optical genome mapping enables accurate repeat expansion testing

Bart P. G. H. van der Sanden, Kornelia Neveling, Syukri Shukor, Michael D. Gallagher et autres

ABSTRACT Short tandem repeats (STRs) are amongst the most abundant class of variations in human genomes and are meiotically and mitotically unstable which leads to expansions and contractions. STR expansions are frequently associated with genetic disorders, with the size of expansions often …

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Characterising tandem repeat complexities across long-read sequencing platforms with TREAT and otter

Niccoló Tesi, Alex Salazar, Yaran Zhang, Sven J. van der Lee et autres

Tandem repeats (TR) play important roles in genomic variation and disease risk in humans. Long-read sequencing allows for the accurate characterisation of TRs, however, the underlying bioinformatics perspectives remain challenging. We present otter and TREAT: otter is a fast targeted local assembler, …

nl, us, be (code pays fourni par la source)

Genetic characterization of primary lateral sclerosis

Eva Maria Johanna de Boer, Bálint S. de Vries, Maartje Pennings, Erik‐Jan Kamsteeg et autres

BACKGROUND AND OBJECTIVES: Primary lateral sclerosis (PLS) is a motor neuron disease characterised by loss of the upper motor neurons. Most patients present with slowly progressive spasticity of the legs, which may also spread to the arms or bulbar regions. It is …

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Copy number variants from 4800 exomes contribute to ~7% of genetic diagnoses in movement disorders, muscle disorders and neuropathies

Maartje Pennings, Rowdy P. P. Meijer, Monique M. Gerrits, Jannie W.H. Janssen et autres

Various groups of neurological disorders, including movement disorders and neuromuscular diseases, are clinically and genetically heterogeneous. Diagnostic panel-based exome sequencing is a routine test for these disorders. Despite the success rates of exome sequencing, it results in the detection of causative sequence …

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Neuromuscular Features in XL-MTM Carriers

Daniëlle K. Franken, Karlijn Bouman, Stacha F.I. Reumers, Frederik Braun et autres

BACKGROUND AND OBJECTIVE: X-linked myotubular myopathy (XL-MTM) is an early-onset congenital myopathy characterized by mild to severe muscle weakness in male individuals. The objective was to characterize the clinical spectrum of neuromuscular features in X-linked myotubular myopathy (XL-MTM) carriers. METHODS: We performed …

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