Related Experiment Video
Updated: Jul 19, 2025

Spectral Karyotyping to Study Chromosome Abnormalities in Humans and Mice with Polycystic Kidney Disease
Published on: February 3, 2012
Sotos Syndrome and Nephrocalcinosis a Rare But Possible Association Due to Impact on Contiguous Genes
Juan D González-Rodríguez1, Esther Q Inglés-Torres1, José E Cabrera-Sevilla1
1Pediatric Nephrology Unit. Santa Lucia General University Hospital, Cartagena, Murcia, Spain.
Abstract:
One-month old, breastfeeding infant, born at term, with normal anthropometric measurements at birth was referred to Pediatric Nephrology due to a nephrocalcinosis. The patient presented with dysmorphic features and heart disease. A metabolic study was conducted on blood and urine yielding results within normal parameters, except for the renal concentration test and acidification test. At six months of age, the patient presented with overgrowth, which along with other clinical signs aroused the suspicion of Sotos syndrome. Molecular genetic testing identified a heterozygous deletion in 5q35 between bands q35.2 and q35.3, affecting the genes NSD1, SLC34A1 and FGFR4, which was compatible with Sotos syndrome and with nephrocalcinosis as a rare association.
More Related Videos
Related Concept Videos
Nephrotic Syndrome I : Introduction
Pleiotropy
Cohesins
Cohesin complexes in Meiotic Division
Meiosis involves two distinct rounds of chromosomal segregation and cell divisions— Meiosis I followed by Meiosis II – producing four daughter cells. Meiosis I includes the separation of...
Nephrons
Genome-wide Association Studies-GWAS
GWAS does not require the identification of the target gene involved in...
Renal Tubule and Collecting Duct
Proximal Convoluted Tubule (PCT):
The PCT is the initial segment of the renal tubule, extending from the Bowman's capsule that encloses the glomerulus. Its convoluted structure and microvilli-lined cells increase the surface area for reabsorption. The PCT reabsorbs glucose, amino acids, sodium, and water from the filtrate, ensuring essential...

