Related Experiment Video

Updated: Dec 14, 2025

In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila
06:41

In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila

Published on: August 20, 2019

14.1K

Sotos syndrome in two children from India

Inusha Panigrahi1, Chakshu Chaudhry1

  • 1Genetic Metabolic Unit, Department of Pediatrics, APC, PGIMER, Chandigarh, India.

American Journal of Medical Genetics. Part A
|July 18, 2020
PubMed

Insights

Sotos syndrome, a rare overgrowth disorder, can cause developmental delays and tall stature. This study identifies two Indian children with Sotos syndrome, confirming NSD1 gene variants through genetic testing.

Area of Science:

  • Genetics
  • Pediatrics
  • Rare Diseases

Background:

  • Sotos syndrome is a genetic overgrowth disorder characterized by intellectual disability, behavioral issues, and tall stature.
  • Clinical manifestations can include seizures, cardiac, and renal anomalies.

Observation:

  • This report details two Indian pediatric cases presenting with Sotos syndrome.
  • Initial symptoms included macrocephaly in one child and behavioral problems in the other.

Findings:

  • Next-generation sequencing confirmed pathogenic variants in the NSD1 gene in both patients.
  • Specific variants identified were NSD1: c.2362C>T and NSD1: c.5474dup, both leading to premature protein termination.

Implications:

  • These findings highlight the genetic basis of Sotos syndrome and the role of NSD1 mutations.
  • Early genetic confirmation is crucial for accurate diagnosis and management of Sotos syndrome in affected children.

Keywords:
NGSNSD1 genemacrocephalyovergrowthseizures

More Related Videos

Navigating MARRVEL, a Web-Based Tool that Integrates Human Genomics and Model Organism Genetics Information09:37

Navigating MARRVEL, a Web-Based Tool that Integrates Human Genomics and Model Organism Genetics Information

Published on: August 15, 2019

10.2K
Generation of Induced Pluripotent Stem Cells from Turner Syndrome 45XO Fetal Cells for Downstream Modelling of Neurological Deficits Associated with the Syndrome09:39

Generation of Induced Pluripotent Stem Cells from Turner Syndrome 45XO Fetal Cells for Downstream Modelling of Neurological Deficits Associated with the Syndrome

Published on: December 4, 2021

3.4K

Related Concept Videos

Pleiotropy01:33

Pleiotropy

Pleiotropy is the phenomenon in which a single gene impacts multiple, seemingly unrelated phenotypic traits. For example, defects in the SOX10 gene cause Waardenburg Syndrome Type 4, or WS4, which can cause defects in pigmentation, hearing impairments, and an absence of intestinal contractions necessary for elimination. This diversity of phenotypes results from the expression pattern of SOX10 in early embryonic and fetal development. SOX10 is found in neural crest cells that form melanocytes,...
42.9K
Sex-linked Disorders01:43

Sex-linked Disorders

Like autosomes, sex chromosomes contain a variety of genes necessary for normal body function. When a mutation in one of these genes results in biological deficits, the disorder is considered sex-linked.
107.2K
Sputum Studies II: Culture and Sensitivity01:20

Sputum Studies II: Culture and Sensitivity

Description
Sputum culture and sensitivity is a medical procedure used to diagnose bacterial infections in the respiratory tract and select the most appropriate antibiotics for treatment. This process involves analyzing sputum samples of thick and opaque secretions produced in the lungs and airways. These samples are collected from patients and then sent to the laboratory for analysis.
The test can identify various pathogens responsible for respiratory infections, including Streptococcus,...
948
Autism Spectrum Disorder01:19

Autism Spectrum Disorder

Autism spectrum disorder (ASD) is a neurodevelopmental condition marked by persistent deficits in social communication and interaction alongside restrictive and repetitive behaviors or interests. ASD is sometimes accompanied by intellectual impairment.
These core symptoms manifest differently among individuals, ranging from mild to severe. The disorder's complexity extends beyond its clinical presentation, encompassing a diverse range of biological, cognitive, and sociocultural influences.
785
Nondisjunction01:29

Nondisjunction

During meiosis, chromosomes occasionally separate improperly. This occurs due to failure of homologous chromosome separation during meiosis I or failed sister chromatid separation during meiosis II. In some species, notably plants, nondisjunction can result in an organism with an entire additional set of chromosomes, which is called polyploidy. In humans, nondisjunction can occur during male or female gametogenesis and the resulting gametes possess one too many or one too few chromosomes.
81.4K
Nondisjunction01:21

Nondisjunction

Nondisjunction is the failure of homologous chromosomes or sister chromatids to separate correctly and move to the opposite poles of the cells. This produces daughter cells with abnormal chromosome numbers.  Nondisjunction is common during anaphase I or anaphase II of meiosis.  Mutations in synaptonemal complex proteins that attach homologous chromosomes increase the chances of nondisjunction in anaphase I of meiosis I. In contrast, mutations in topoisomerases and condensins that hold...
4.6K