Hans Matsson

Genome Sequencing in 19 Families With Bladder Exstrophy and Epispadias Complex Indicates Involvement of the ADGR ‐Gene Family

Agneta Nordenskjöld, Samara Alm, Jesper Eisfeldt, Jia Cao et autres

Bladder exstrophy and epispadias complex (BEEC) is one of the most severe congenital malformations of the urogenital tract, significantly impacting continence, sexual function, and renal function. To date, the only recurrent genetic aberration identified is the 22q.11.2 microduplication, but several candidate regions …

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Bi-allelic pathogenic variants in TRMT1 disrupt tRNA modification and induce a neurodevelopmental disorder

Stéphanie Efthymiou, Cailyn P Leo, Chenghong Deng, Sheng‐Jia Lin et autres

The post-transcriptional modification of tRNAs plays a crucial role in tRNA structure and function. Pathogenic variants in tRNA-modification enzymes have been implicated in a wide range of human neurodevelopmental and neurological disorders. However, the molecular basis for many of these disorders remains …

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Biallelic pathogenic variants in TRMT1 disrupt tRNA modification and induce a syndromic neurodevelopmental disorder

Stéphanie Efthymiou, Cailyn P Leo, Chenghong Deng, Kejia Zhang et autres

Abstract The post-transcriptional modification of tRNAs plays a key role in tRNA folding and function to ensure proper levels of protein synthesis during growth and development. Pathogenic variants in tRNA modification enzymes have been implicated in diverse human neurodevelopmental and neurological disorders. …

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Case report: a novel deep intronic splice-altering variant in DMD as a cause of Becker muscular dystrophy

Shala Ghaderi Berntsson, Hans Matsson, Anna Kristoffersson, Valter Niemelä et autres

We present the case of a male patient who was ultimately diagnosed with Becker muscular dystrophy (BMD; MIM# 300376 ) after the onset of muscle weakness in his teens progressively led to significant walking difficulties in his twenties. A genetic diagnosis was …

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Rare variants in dynein heavy chain genes in two individuals with situs inversus and developmental dyslexia: a case report

Andrea Bieder, Elísabet Einarsdóttir, Hans Matsson, Harriet E. Nilsson et autres

BACKGROUND: Developmental dyslexia (DD) is a neurodevelopmental learning disorder with high heritability. A number of candidate susceptibility genes have been identified, some of which are linked to the function of the cilium, an organelle regulating left-right asymmetry development in the embryo. Furthermore, …

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Rare variants in dynein heavy chain genes in two individuals with situs inversus and developmental dyslexia

Andrea Bieder, Elísabet Einarsdóttir, Hans Matsson, Harriet E. Nilsson et autres

ABSTRACT Background Developmental dyslexia (DD) is a neurodevelopmental learning disorder with high heritability. A number of candidate susceptibility genes have been identified, some of which are linked to the function of the cilium, an organelle regulating left-right asymmetry development in the embryo. …

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X-box promoter motif searches: from C. elegans to humans to novel candidate ciliopathies

Gilbert Lauter, Kristiina Tammimies, Andrea Bieder, Rachel Torchet et autres

Ciliary defects are known to cause severe genetic disorders, collectively called ciliopathies. We attempt to identify genes involved in human ciliopathies by making use of the evolutionarily conserved X-box promoter motif recognized by ciliogenic RFX transcription factors. We use bioinformatics tools to …

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CTNND2—a candidate gene for reading problems and mild intellectual disability

Wolfgang Hofmeister, Daniel Nilsson, Alexandra Topa, Britt‐Marie Anderlid et autres

BACKGROUND: Cytogenetically visible chromosomal translocations are highly informative as they can pinpoint strong effect genes even in complex genetic disorders. METHODS AND RESULTS: Here, we report a mother and daughter, both with borderline intelligence and learning problems within the dyslexia spectrum, and …

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ISDN2012_0190: The molecular network of the dyslexia candidate gene DYX1C1 shows connection to neuronal migration genes and cytoskeletal proteins

Kristiina Tammimies, Morana Vitezic, Hans Matsson, Sylvie Le Guyader et autres

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Molecular Networks of DYX1C1 Gene Show Connection to Neuronal Migration Genes and Cytoskeletal Proteins

Kristiina Tammimies, Morana Vitezic, Hans Matsson, Sylvie Le Guyader et autres

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Study of Estrogen Receptor-α and Receptor-β Gene Polymorphisms on Alzheimer's Disease

Louisa Goumidi, Karin Dahlman‐Wright, Isabel Tapia‐Páez, Hans Matsson et autres

Estrogen treatment can modulate the risk for developing dementia in women. Therefore, single nucleotide polymorphisms (SNPs) in the estrogen receptor genes may constitute genetic susceptibility factors to Alzheimer's disease (AD). Thus, we investigated the impact of the genetic variability of the estrogen …

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Increased Expression of the Dyslexia Candidate Gene DCDC2 Affects Length and Signaling of Primary Cilia in Neurons

Satu Massinen, Marie‐Estelle Hokkanen, Hans Matsson, Kristiina Tammimies et autres

DCDC2 is one of the candidate susceptibility genes for dyslexia. It belongs to the superfamily of doublecortin domain containing proteins that bind to microtubules, and it has been shown to be involved in neuronal migration. We show that the Dcdc2 protein localizes …

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