Two variants in SLC34A3 in a patient with X-linked hypophosphatemia: a diagnostic and therapeutic dilemma.

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...

Mucolipidosis II: novel variants, clinical variation and assessment of HAP1 cells as a disease model.

Chronic hypophosphatemia leading to the diagnosis of autosomal recessive hypophosphatemic rickets type 2 caused by a novel pathogenic variant in ENPP1.

Autosomal recessive hypophosphatemic rickets type 2 (ARHR2) is a rare metabolic bone disorder caused by biallelic loss-of-function variants in ENPP1, the gene encoding for Ectonucleotide pyrophosphatase/phosphodiesterase 1 (ENPP1), an enzyme essential for generating extracellular pyrophosphate, a key endogenous inhibit...

Case report: A Newly Identified G-protein Subunit α-11 Loss-of-Function Variant Causing Familial Hypocalciuric Hypercalcemia Type 2 in an Italian Kindred

Background FHH2 is the rarest subtype of familial hypocalciuric hypercalcemia disorders affecting the CaSR signaling pathway. It is caused by heterozygous loss-of-function mutations in the GNA11 gene, encoding Gα11 protein. Only seven GNA11 pathogenic variants have been reported so far. Case description We report the c...

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

Introduction Hereditary spherocytosis (HS) is the most common inherited red cell membranopathy caused by defects in erythrocyte membrane and cytoskeletal proteins, including ankyrin, spectrin, band 3, and protein 4.2. Among these, mutations in SLC4A1, which encodes the erythrocyte anion exchanger band 3 (AE1), account...

Familial hypomagnesemia with hypercalciuria and nephrocalcinosis (FHHNC) with ocular involvement due to a novel CLDN19 variant.

Claudin-16 (CLDN16) and claudin-19 (CLDN19) are essential tight junction proteins in the kidney that are critical for magnesium homeostasis. Mutations in CLDN16 and CLDN19 cause Familial Hypomagnesemia with Hypercalciuria and Nephrocalcinosis (FHHNC), a rare autosomal recessive tubular disorder. The disorder can progre...