In 2016, a 19-year-old man developed severe muscle cramps following a diarrheal illness. On evaluation, he was found to have deranged kidney function and referred to nephrology. At the time of referral, his creatinine level was 213.04 μmol/l (2.41 mg/dl) (estimated glomerular filtration rate, 36 ml/min per 1.73 m2), with bland urine sediment, and a blood pressure of 100/60 mm Hg. Physical examination was unremarkable. Investigations showed hypomagnesemia (Supplementary Table S1).

DYT-ANO3 is an autosomal dominant dystonia syndrome caused by pathogenic variants in the ANO3 gene, typically presenting as focal or segmental dystonia of the neck and upper limbs, often accompanied by tremor. However, the clinical spectrum has broadened to include a variety of movement phenotypes. Here, we report a large Indian family harbouring a novel ANO3 variant, demonstrating wide phenotypic heterogeneity.

Sarcomas exhibit clinicopathologic heterogeneity, leading to diagnostic and therapeutic uncertainty. This study assesses the clinical value of integrating targeted RNA-based next-generation sequencing (NGS) into a multidisciplinary sarcoma workflow to improve diagnosis, enable comprehensive molecular characterization, and inform personalized treatment strategies.

Autosomal Dominant Polycystic Kidney Disease (ADPKD) and X-Linked Alport Syndrome (AS) are the most common monogenic causes of chronic kidney disease (CKD), each capable of independently leading to end-stage kidney disease (ESKD). However, the concurrent presence of both disorders in a single individual is exceedingly rare and poses significant diagnostic complexity.

Heterozygous familial hypercholesterolemia (FH), a monogenic cause for premature coronary artery disease (CAD) is often underdiagnosed. In individuals who meet the FH diagnostic criteria and lack pathogenic variants, polygenic factors are recognized as potential contributors.

Chronic lymphatic leukemia (CLL) is the most common type of leukemia in the West, with an incidence of 4.2 per 100 000 population. Penile prepuce involvement at presentation, as the first manifestation of CLL, is extremely rare.

Isolated growth hormone deficiency (IGHD) is one of the treatable causes of short stature. We aimed to describe the clinical, biochemical, and molecular characteristics of IGHD and identify clinical predictors of mutation positivity and first-year height response to recombinant human growth hormone (rhGH).

Gene duplication followed by adaptation to new selection pressures has been proposed to be of central importance in the evolution of venom toxins. Coupling high-quality genome data with quantitative bioactivity readouts can be used to understand how venom toxins evolved, but such studies are rare. Here, we report a near chromosomal-level genome assembly for Doratifera vulnerans (Lepidoptera: Limacodidae), which is venomous in the larval stage.

Diabetic retinopathy, a microvascular complication of diabetes, is a primary cause of vision loss. Elevated levels of Nε-(Carboxymethyl) lysine (CML), the predominant advanced glycation end product, are associated with its progression. To delve into the critical aspects of CML-induced epigenetic modulation, this study analysed DNA methylation profiles in a co-culture model following CML exposure.

Primary distal renal tubular acidosis (dRTA) is a rare inherited renal tubular disorder having a significant impact on growth and kidney function. Data on molecular genetics and long-term outcomes of primary dRTA, especially for newer genotypes, are limited.