Astrid S. Plomp
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View article: PTBP1 variants displaying altered nucleocytoplasmic distribution are responsible for a neurodevelopmental disorder with skeletal dysplasia
PTBP1 variants displaying altered nucleocytoplasmic distribution are responsible for a neurodevelopmental disorder with skeletal dysplasia Open
Polypyrimidine tract-binding protein 1 (PTBP1) is a heterogeneous nuclear ribonucleoprotein primarily known for its alternative splicing activity. It shuttles between the nucleus and cytoplasm via partially overlapping N-terminal nuclear l…
View article: Two pairs of CACNA1I (CaV3.3) variants with opposite effects on channel function cause neurodevelopmental disorders of varying severity
Two pairs of CACNA1I (CaV3.3) variants with opposite effects on channel function cause neurodevelopmental disorders of varying severity Open
The T-type voltage-gated calcium channel Ca V 3.3 is expressed in GABAergic neurons of the thalamic reticular nucleus (TRN), where its pacemaking activity controls sleep spindle rhythmogenesis during the non-rapid eye movement (NREM) phase…
View article: Pseudocolobomatous autosomal dominant atrophic maculopathy (PADAM)
Pseudocolobomatous autosomal dominant atrophic maculopathy (PADAM) Open
Pseudocolobomatous autosomal dominant atrophic maculopathy (PADAM) is a striking hereditary maculopathy that leads to progressive central vision loss. Future studies may provide additional insights into the genetic basis and underlying mec…
View article: Frequency and Genetic Spectrum of Inherited Retinal Dystrophies in a Large Dutch Pediatric Cohort: The RD5000 Consortium
Frequency and Genetic Spectrum of Inherited Retinal Dystrophies in a Large Dutch Pediatric Cohort: The RD5000 Consortium Open
As in most countries, RP and LCA are the most prominent pediatric IRDs in the Netherlands, and variants in RS1 and CEP290 were the most prominent IRD genotypes. Our findings can guide therapy development to target the diseases and genes wi…
View article: Utilization of automated cilia analysis to characterize novel INPP5E variants in patients with non-syndromic retinitis pigmentosa
Utilization of automated cilia analysis to characterize novel INPP5E variants in patients with non-syndromic retinitis pigmentosa Open
INPP5E encodes inositol polyphosphate-5-phosphatase E, an enzyme involved in regulating the phosphatidylinositol (PIP) makeup of the primary cilium membrane. Pathogenic variants in INPP5E hence cause a variety of ciliopathies: genetic diso…
View article: Leber's hereditary optic neuropathy like disease in MT-ATP6 variant m.8969G>A
Leber's hereditary optic neuropathy like disease in MT-ATP6 variant m.8969G>A Open
Rare variants in MT-ATP6 can also cause LHON like optic atrophy. It is important to perform further genetic analysis of mitochondrial DNA in genetically unsolved cases suspected of Leber's hereditary optic neuropathy to confirm the clinica…
View article: Representation of Women Among Individuals With Mild Variants in <i>ABCA4</i>-Associated Retinopathy
Representation of Women Among Individuals With Mild Variants in <i>ABCA4</i>-Associated Retinopathy Open
Importance Previous studies indicated that female sex might be a modifier in Stargardt disease, which is an ABCA4 -associated retinopathy. Objective To investigate whether women are overrepresented among individuals with ABCA4 -associated …
View article: Retinitis Pigmentosa: Current Clinical Management and Emerging Therapies
Retinitis Pigmentosa: Current Clinical Management and Emerging Therapies Open
Retinitis pigmentosa (RP) comprises a group of inherited retinal dystrophies characterized by the degeneration of rod photoreceptors, followed by the degeneration of cone photoreceptors. As a result of photoreceptor degeneration, affected …
View article: Stable Long-Term Outcomes after Cochlear Implantation in Subjects with <i>TMPRSS3</i> Associated Hearing Loss: A Retrospective Multicentre Study
Stable Long-Term Outcomes after Cochlear Implantation in Subjects with <i>TMPRSS3</i> Associated Hearing Loss: A Retrospective Multicentre Study Open
Background The spiral ganglion hypothesis suggests that pathogenic variants in genes preferentially expressed in the spiral ganglion nerves (SGN), may lead to poor cochlear implant (CI) performance. It was long thought that TMPRSS3 was par…
View article: Functional correlation of genome‐wide DNA methylation profiles in genetic neurodevelopmental disorders
Functional correlation of genome‐wide DNA methylation profiles in genetic neurodevelopmental disorders Open
An expanding range of genetic syndromes are characterized by genome-wide disruptions in DNA methylation profiles referred to as episignatures. Episignatures are distinct, highly sensitive, and specific biomarkers that have recently been ap…
View article: Comprehensive variant spectrum of the <i>CNGA3</i> gene in patients affected by achromatopsia
Comprehensive variant spectrum of the <i>CNGA3</i> gene in patients affected by achromatopsia Open
Achromatopsia (ACHM) is a congenital cone photoreceptor disorder characterized by impaired color discrimination, low visual acuity, photosensitivity, and nystagmus. To date, six genes have been associated with ACHM (CNGA3, CNGB3, GNAT2, PD…
View article: Molecular Inversion Probe-Based Sequencing of USH2A Exons and Splice Sites as a Cost-Effective Screening Tool in USH2 and arRP Cases
Molecular Inversion Probe-Based Sequencing of USH2A Exons and Splice Sites as a Cost-Effective Screening Tool in USH2 and arRP Cases Open
A substantial proportion of subjects with autosomal recessive retinitis pigmentosa (arRP) or Usher syndrome type II (USH2) lacks a genetic diagnosis due to incomplete USH2A screening in the early days of genetic testing. These cases lack e…
View article: Pathogenic Neurofibromatosis type 1 (NF1) RNA splicing resolved by targeted RNAseq
Pathogenic Neurofibromatosis type 1 (NF1) RNA splicing resolved by targeted RNAseq Open
Purpose Neurofibromatosis type 1 (NF1) is caused by loss-of-function variants in the NF1 gene. Approximately 10% of these variants affect RNA splicing and are either missed by conventional DNA diagnostics or are misinterpreted by in silico…
View article: Development, behaviour and sensory processing in Marshall–Smith syndrome and Malan syndrome: phenotype comparison in two related syndromes
Development, behaviour and sensory processing in Marshall–Smith syndrome and Malan syndrome: phenotype comparison in two related syndromes Open
Background Ultrarare Marshall–Smith and Malan syndromes, caused by changes of the gene nuclear factor I X ( NFIX ), are characterised by intellectual disability (ID) and behavioural problems, although questions remain. Here, development an…
View article: Variants in the SK2 channel gene (<i>KCNN2</i>) lead to dominant neurodevelopmental movement disorders
Variants in the SK2 channel gene (<i>KCNN2</i>) lead to dominant neurodevelopmental movement disorders Open
KCNN2 encodes the small conductance calcium-activated potassium channel 2 (SK2). Rodent models with spontaneous Kcnn2 mutations show abnormal gait and locomotor activity, tremor and memory deficits, but human disorders related to KCNN2 var…
View article: Pathogenic effect of a <i>TGFBR1</i> mutation in a family with Loeys–Dietz syndrome
Pathogenic effect of a <i>TGFBR1</i> mutation in a family with Loeys–Dietz syndrome Open
Background Thoracic aortic aneurysms and dissections (TAAD) may have a heritable cause in up to 20% of cases. We aimed to investigate the pathogenic effect of a TGFBR1 mutation in relation to TAAD. Methods Co‐segregation analysis was perfo…
View article: Macular Dystrophy and Cone-Rod Dystrophy Caused by Mutations in the<i>RP1</i>Gene: Extending the<i>RP1</i>Disease Spectrum
Macular Dystrophy and Cone-Rod Dystrophy Caused by Mutations in the<i>RP1</i>Gene: Extending the<i>RP1</i>Disease Spectrum Open
Mutations in the RP1 gene are associated with a broad spectrum of progressive retinal dystrophies. In addition to adRP and arRP, our study provides further evidence that arCRD and arMD are RP1-associated phenotypes as well. The macular inv…
View article: The Common<i>ABCA4</i>Variant p.Asn1868Ile Shows Nonpenetrance and Variable Expression of Stargardt Disease When Present in<i>trans</i>With Severe Variants
The Common<i>ABCA4</i>Variant p.Asn1868Ile Shows Nonpenetrance and Variable Expression of Stargardt Disease When Present in<i>trans</i>With Severe Variants Open
A significant fraction of genetically unexplained STGD1 cases carries p.Asn1868Ile as a second variant. Our findings suggest exceptional differences in disease expression or even nonpenetrance of this ABCA4 variant, pointing toward an impo…