Whole exome sequencing identifies three novel variants and establishes the molecular diagnosis of ATP6V0A4-related distal renal tubular acidosis in a lebanese infant

Early-onset autosomal dominant distal renal tubular acidosis caused by a de novo SLC4A1 R589C variant with growth failure and rickets

Hereditary Renal Hypouricemia Caused by a Novel SLC2A9 Variant: Functional Characterization and Systematic Literature Review

Congenital renal hypouricemia (RHUC) is a heterogeneous inherited disorder characterized by impaired tubular uric acid transport with severe complications, such as acute kidney injury. Type 1 is caused by a loss-of-function mutation in the SLC22A12 gene (URAT1), type 2 in the SLC2A9 gene (GLUT9). We describe the clinic...

Expanding the genetic landscape of SLC4A1-linked hereditary spherocytosis: discovery of a novel TM9 variant using high-resolution genomic profiling analysis

Findings expand the mutational spectrum of SLC4A1-related HS in Indian patients with mild to moderate HS characterized by anemia, jaundice, splenomegaly, reticulocytosis, and reduced EMA fluorescence.

Identification of a novel homozygous FRRS1L variant in a Chinese girl with development delay and epilepsy: a case report

This study expands the genetic and phenotypic spectrums of DEE37, provides novel evidence supporting the correlation between FRRS1L variants and DEE37, and underscores the necessity for dynamic EEG monitoring and proactive management in high-risk patients with refractory seizures.

Genetic and clinical spectrum of progressive familial intrahepatic cholestasis type 1: novel ATP8B1 variants and genotype–phenotype correlations

Beyond Sequencing: Integrating MLPA Reveals Hidden Structural PKD2 Variants and Enhances Mutation Detection in a Highly Selected ADPKD Greek Cohort

The findings identify structural PKD2 variation as an under-recognized cause of genetically unresolved late-onset ADPKD and demonstrate that phenotype-guided incorporation of copy number analysis can overcome limitations of NGS alone.