Related Experiment Video
Updated: Aug 15, 2026
08:57
Identifying, Diagnosing, and Grading Malignant Peripheral Nerve Sheath Tumors in Genetically Engineered Mouse Models
Published on: May 17, 2024
Familial gigantism caused by an NSD1 mutation
Mieke M van Haelst1, Jeannette J M Hoogeboom, Genevieve Baujat
1Department of Clinical Genetics, Erasmus Medical Centre Rotterdam, The Netherlands.
American Journal of Medical Genetics. Part A
|October 14, 2005
Summary
A novel NSD1 gene mutation causes Sotos syndrome, a rare overgrowth condition. This family study highlights key physical traits, noting the absence of intellectual disability in affected members.
Area of Science:
- Genetics
- Pediatrics
- Endocrinology
Background:
- Sotos syndrome is an overgrowth condition linked to NSD1 gene mutations.
- It is characterized by specific facial anomalies, macrocephaly, advanced bone age, and learning disabilities.
Observation:
- A three-generation family exhibited autosomal dominant inheritance of a new NSD1 mutation (6605G --> A, Cys2202Tyr).
- Affected individuals presented with significantly increased height, weight, and head circumference.
- Distinct facial features included a long face, large mandible, and large ears.
Findings:
- Haploinsufficiency of the NSD1 gene is confirmed as a primary cause of Sotos syndrome.
- The identified NSD1 mutation segregated with the overgrowth phenotype in the family.
- Notably, affected family members did not exhibit mental deficiency, a common feature in Sotos syndrome.
Implications:
- This finding expands the understanding of NSD1 mutations and their phenotypic variability in Sotos syndrome.
- It underscores the importance of genetic testing for NSD1 in diagnosing overgrowth conditions.
- Further research into genotype-phenotype correlations can refine diagnostic and management strategies for Sotos syndrome.
More Related Videos
09:37Defining Gene Functions in Tumorigenesis by Ex vivo Ablation of Floxed Alleles in Malignant Peripheral Nerve Sheath Tumor Cells
Published on: August 25, 2021
09:34Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease
Published on: April 4, 2018
Related Concept Videos
01:21Huntington Disease l: Introduction
Huntington disease or HD is a progressive, fatal neurodegenerative disorder inherited in an autosomal dominant pattern.PathophysiologyIt is caused by expansion of the CAG trinucleotide repeat in the HTT gene on chromosome 4 (4p16.3), producing an abnormal huntingtin protein with an expanded polyglutamine tract. This misfolded protein disrupts cellular function, leading to neuronal death. Normal alleles have ≤26 repeats, 27–35 are intermediate (risk of expansion), 36–39 show reduced penetrance,...
01:20Inborn Errors of Metabolism
Phenylketonuria (PKU) is a protein metabolism disorder characterized by high blood levels of the amino acid phenylalanine. This results from a mutation in the gene responsible for phenylalanine hydroxylase, an enzyme that converts phenylalanine into tyrosine. When this enzyme is deficient, phenylalanine builds up in the blood, leading to symptoms such as vomiting, rashes, seizures, growth deficiency, and severe mental retardation. An early diagnosis and a diet restricting phenylalanine intake...
01:33Pleiotropy
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,...
01:10Nature and Nurture
Many human characteristics, like height, are shaped by both nature—in other words, by our genes—and by nurture, or our environment. For example, chronic stress during childhood inhibits the production of growth hormones and consequently reduces bone growth and height. Scientists estimate that 70-90% of variation in height is due to genetic differences among individuals, and 10-30% of variation in height is due to differences in the environments that individuals experience, such as differences...
02:38The Ras Gene
The Ras-gene-encoded proteins are regulators of signaling pathways controlling cell proliferation, differentiation, or cell survival. The Ras-gene family in humans constitutes three primary members—the HRas, NRas, and KRas. These genes code for four functionally distinct yet closely related proteins—the HRas, NRas, KRas4A, and KRas4B. The involvement of mutant Ras genes in human cancer was first discovered in 1982 and is among the most common causes of human tumorigenesis.
Ras is a superfamily...
Ras is a superfamily...
01:26Cellular Adaptation II: Hypertrophy
Hypertrophy is the increase in the size of individual cells, resulting in the enlargement of a tissue or organ. Unlike hyperplasia, which involves an increase in cell number, hypertrophy is characterized by an increase in cell volume. This process often occurs in response to higher functional demand or hormonal stimulation, leading to the production of more structural proteins and organelles, thereby enhancing the cells' work capacity.There are two primary types of hypertrophy: physiological...