Derek Lim
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View article: Investigating the neuronal role of the proteasomal ATPase subunit gene PSMC5 in neurodevelopmental proteasomopathies
Investigating the neuronal role of the proteasomal ATPase subunit gene PSMC5 in neurodevelopmental proteasomopathies Open
Neurodevelopmental proteasomopathies are a group of disorders caused by variants in proteasome subunit genes, that disrupt protein homeostasis and brain development through poorly characterized mechanisms. Here, we report 26 distinct varia…
View article: Inherited predisposition to pneumothorax: estimating the frequency of Birt-Hogg-Dub� syndrome from genomics and population cohorts
Inherited predisposition to pneumothorax: estimating the frequency of Birt-Hogg-Dub� syndrome from genomics and population cohorts Open
Birt-Hogg-Dub� syndrome (BHDS) is the most common monogenic cause of pneumothorax. Most affected families have pathogenic variants in the FLCN gene. Using large genomic registries (UK Biobank (UKB), 100,000 Genomes Project and East London …
View article: Unveiling the crucial neuronal role of the proteasomal ATPase subunit gene<i>PSMC5</i>in neurodevelopmental proteasomopathies
Unveiling the crucial neuronal role of the proteasomal ATPase subunit gene<i>PSMC5</i>in neurodevelopmental proteasomopathies Open
Neurodevelopmental proteasomopathies represent a distinctive category of neurodevelopmental disorders (NDD) characterized by genetic variations within the 26S proteasome, a protein complex governing eukaryotic cellular protein homeostasis.…
View article: A case of mosaic deletion of paternally‐inherited <scp><i>PLAGL1</i></scp> and two cases of upd(6)mat add to evidence for <scp><i>PLAGL1</i></scp> under‐expression as a cause of growth restriction
A case of mosaic deletion of paternally‐inherited <span><i>PLAGL1</i></span> and two cases of upd(6)mat add to evidence for <span><i>PLAGL1</i></span> under‐expression as a cause of growth restriction Open
PLAGL1 is one of a group of imprinted genes, whose altered expression causes imprinting disorders impacting growth, development, metabolism, and behavior. PLAGL1 over‐expression causes transient neonatal diabetes mellitus (TNDM type 1) and…
View article: Overlapping cortical malformations in patients with pathogenic variants in <i>GRIN1</i> and <i>GRIN2B</i>
Overlapping cortical malformations in patients with pathogenic variants in <i>GRIN1</i> and <i>GRIN2B</i> Open
Background Malformations of cortical development (MCDs) have been reported in a subset of patients with pathogenic heterozygous variants in GRIN1 or GRIN2B , genes which encode for subunits of the N-methyl-D-aspartate receptor (NMDAR). The…
View article: Heterozygous variants in <scp><i>ZBTB7A</i></scp> cause a neurodevelopmental disorder associated with symptomatic overgrowth of pharyngeal lymphoid tissue, macrocephaly, and elevated fetal hemoglobin
Heterozygous variants in <span><i>ZBTB7A</i></span> cause a neurodevelopmental disorder associated with symptomatic overgrowth of pharyngeal lymphoid tissue, macrocephaly, and elevated fetal hemoglobin Open
By clinical whole exome sequencing, we identified 12 individuals with ages 3 to 37 years, including three individuals from the same family, with a consistent phenotype of intellectual disability (ID), macrocephaly, and overgrowth of adenoi…
View article: A systematic review assessing the existence of pneumothorax-only variants of FLCN. Implications for lifelong surveillance of renal tumours
A systematic review assessing the existence of pneumothorax-only variants of FLCN. Implications for lifelong surveillance of renal tumours Open
Individuals with Birt–Hogg–Dubé syndrome (BHDS) may develop fibrofolliculomas, pneumothorax and/or renal cell carcinoma (RCC). Currently, all patients with pathogenic FLCN variants are recommended to have renal surveillance. It has however…
View article: Kosaki overgrowth syndrome: A novel pathogenic variant in <scp><i>PDGFRB</i></scp> and expansion of the phenotype including cerebrovascular complications
Kosaki overgrowth syndrome: A novel pathogenic variant in <span><i>PDGFRB</i></span> and expansion of the phenotype including cerebrovascular complications Open
Heterozygous activating variants in platelet‐derived growth factor, beta ( PDGFRB ) are associated with phenotypes including Kosaki overgrowth syndrome (KOGS), Penttinen syndrome and infantile myofibromatosis (IM). Here, we present three n…
View article: A study of gene mutations and how they relate to the different types of ichthyosis
A study of gene mutations and how they relate to the different types of ichthyosis Open
Ichthyosis is a disorder in which the skin is very thick and scaly. It is usually caused by a genetic mistake (mutation). “Autosomal recessive” ichthyosis occurs when parents who are healthy carriers both pass on a mutant gene to their chi…
View article: Characterization of renal cell carcinoma‐associated constitutional chromosome abnormalities by genome sequencing
Characterization of renal cell carcinoma‐associated constitutional chromosome abnormalities by genome sequencing Open
Constitutional translocations, typically involving chromosome 3, have been recognized as a rare cause of inherited predisposition to renal cell carcinoma (RCC) for four decades. However, knowledge of the molecular basis of this association…
View article: Hereditary Leiomyomatosis and Renal Cell Cancer: Clinical, Molecular, and Screening Features in a Cohort of 185 Affected Individuals
Hereditary Leiomyomatosis and Renal Cell Cancer: Clinical, Molecular, and Screening Features in a Cohort of 185 Affected Individuals Open
We show that hereditary leiomyomatosis and renal cell cancer is associated with a 21% lifetime risk of renal cell carcinoma (RCC; 95% confidence interval 8.2-37.1), and renal imaging screening detects early-stage RCC.
View article: The clinical and molecular genetic investigation of genetic conditions predisposing to kidney cancers
The clinical and molecular genetic investigation of genetic conditions predisposing to kidney cancers Open
Beckwith Wiedemann syndrome (BWS) and Birt-Hogg-Dube syndrome (BHD) are two examples of genetic conditions that are associated with an increased risk of renal neoplasia (Wilms tumour and renal cell carcinoma (RCC) respectively). BWS is a m…
View article: CNVs affecting cancer predisposing genes (CPGs) detected as incidental findings in routine germline diagnostic chromosomal microarray (CMA) testing
CNVs affecting cancer predisposing genes (CPGs) detected as incidental findings in routine germline diagnostic chromosomal microarray (CMA) testing Open
Background Identification of CNVs through chromosomal microarray (CMA) testing is the first-line investigation in individuals with learning difficulties/congenital abnormalities. Although recognised that CMA testing may identify CNVs encom…
View article: Not all <i>SCN1A</i> epileptic encephalopathies are Dravet syndrome
Not all <i>SCN1A</i> epileptic encephalopathies are Dravet syndrome Open
Here, we present a phenotype-genotype correlation for SCN1A. We describe a distinct SCN1A phenotype, early infantile SCN1A encephalopathy, which is readily distinguishable from the well-recognized entities of Dravet syndrome and genetic ep…
View article: Structural analysis of pathogenic mutations in the<i>DYRK1A</i>gene in patients with developmental disorders
Structural analysis of pathogenic mutations in the<i>DYRK1A</i>gene in patients with developmental disorders Open
Haploinsufficiency in DYRK1A is associated with a recognizable developmental syndrome, though the mechanism of action of pathogenic missense mutations is currently unclear. Here we present 19 de novo mutations in this gene, including five …
View article: Multilocus Inherited Neoplasia Alleles Syndrome
Multilocus Inherited Neoplasia Alleles Syndrome Open
Mendelian causes of inherited cancer susceptibility are mostly rare and characterized by variable expression and incomplete penetrance. Phenotypic variability may result from a range of causes including locus heterogeneity, allelic heterog…