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Digenic inheritance involving a muscle-specific protein kinase and the giant titin protein causes a skeletal muscle myopathy
In digenic inheritance, pathogenic variants in two genes must be inherited together to cause disease. Only very few examples of digenic inheritance...
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Long-read sequencing improves the genetic diagnosis of retinitis pigmentosa by identifying an Alu retrotransposon insertion in the EYS gene
BackgroundBiallelic variants in EYS are the major cause of autosomal recessive retinitis pigmentosa (arRP) in certain populations, a clinically and...
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Genome-wide meta-analysis identifies 93 risk loci and enables risk prediction equivalent to monogenic forms of venous thromboembolism
We report a genome-wide association study of venous thromboembolism (VTE) incorporating 81,190 cases and 1,419,671 controls sampled from six cohorts....
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Sudden death in epilepsy and ectopic neurohypophysis in Joubert syndrome 23 diagnosed using SNVs/indels and structural variants pipelines on WGS data: a case report
BackgroundJoubert syndrome (JBTS) is a genetically heterogeneous group of neurodevelopmental syndromes caused by primary cilia dysfunction. Usually...
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PARKIN is not required to sustain OXPHOS function in adult mammalian tissues
Loss-of-function variants in the PRKN gene encoding the ubiquitin E3 ligase PARKIN cause autosomal recessive early-onset Parkinson’s disease (PD)....
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Multifaceted Roles of AFG3L2, a Mitochondrial ATPase in Relation to Neurological Disorders
AFG3L2 is a zinc metalloprotease and an ATPase localized in an inner mitochondrial membrane involved in mitochondrial quality control of several...
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Skin Cancer: An Overview
Skin cancer is one of the most prevalent forms of cancer, comprising two major types: non-melanoma and melanoma. The major cause behind development...
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A novel 268 kb deletion combined with a splicing variant in IL7R causes of severe combined immunodeficiency in a Chinese family: a case report
BackgroundSevere combined immunodeficiency (SCID) is a group of fatal primary immunodeficiencies characterized by the severe impairment of T-cell...
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ACAN biallelic variants in a girl with severe idiopathic short stature
Although ACAN heterozygous loss-of-function variants often cause idiopathic short stature (ISS) phenotype, there is no report describing ISS...
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Dutch Pharmacogenetics Working Group (DPWG) guideline for the gene-drug interaction between CYP2D6, CYP2C19 and non-SSRI/non-TCA antidepressants
The Dutch Pharmacogenetics Working Group (DPWG) aims to facilitate pharmacogenetics implementation in clinical practice by develo** evidence-based...
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Recessive dystrophic epidermolysis bullosa caused by a novel COL7A1 variant with isodisomy
Recessive dystrophic epidermolysis bullosa is a genetic collagen disorder characterized by skin fragility that leads to generalized severe...
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Parasite genetic diversity reflects continued residual malaria transmission in Vhembe District, a hotspot in the Limpopo Province of South Africa
BackgroundSouth Africa aims to eliminate malaria transmission by 2023. However, despite sustained vector control efforts and case management...
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Disrupted Ca2+ homeostasis and immunodeficiency in patients with functional IP3 receptor subtype 3 defects
Calcium signaling is essential for lymphocyte activation, with genetic disruptions of store-operated calcium (Ca 2+ ) entry resulting in severe...
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A severe neurodegenerative disease with Lewy bodies and a mutation in the glucocerebrosidase gene
Several heterozygous variants of the glucocerebrosidase gene ( GBA1 ) have been reported to increase the risk of Parkinson’s disease (PD) and dementia...
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Pathological variants in genes associated with disorders of sex development and central causes of hypogonadism in a whole-genome reference panel of 8380 Japanese individuals
Disorders of sex development (DSD) comprises a congenital condition in which chromosomal, gonadal, or anatomical sex development is atypical. In this...
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LARS2 variants can present as premature ovarian insufficiency in the absence of overt hearing loss
Premature ovarian insufficiency (POI) affects 1 in 100 women and is a leading cause of female infertility. There are over 80 genes in which variants...
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Evaluating the association of biallelic OGDHL variants with significant phenotypic heterogeneity
BackgroundBiallelic variants in OGDHL , encoding part of the α-ketoglutarate dehydrogenase complex, have been associated with highly heterogeneous...
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β-Hemoglobinopathies and Early Onset of Cancers in Adulthood: Epidemiology in Southeastern Asia and Brunei with Emphasis for Prevention and Treatment
Despite occurring with lesser incidence in comparison with Western countries, breast cancers (BC) manifest at earlier ages than in the Western World...