Related Experiment Video
Updated: Jun 15, 2025
08:42
Skeletal Phenotype Analysis of a Conditional Stat3 Deletion Mouse Model
Published on: July 3, 2020
4.4K
A GALNT3 mutation causing Hyperphosphatemic familial Tumoral calcinosis
Aijia Wu1, Bangxiang Yang2, Xijie Yu1
1Department of Endocrinology, Laboratory of Endocrinology and Metabolism, Rare Disease Center, West China Hospital, Sichuan University, Chengdu 610041, China.
Molecular Genetics and Metabolism Reports
|August 26, 2024
Summary
Hyperphosphatemic Familial Tumoral Calcinosis (HFTC) is a rare genetic disorder. This study identifies a novel GALNT3 gene mutation causing HFTC in a consanguineous Chinese family.
Area of Science:
- Genetics
- Molecular Biology
- Biochemistry
Background:
- Hyperphosphatemic Familial Tumoral Calcinosis (HFTC) is an autosomal recessive disorder characterized by abnormal calcification.
- Understanding the genetic basis of HFTC is crucial for diagnosis and potential therapeutic strategies.
Observation:
- This study investigated a consanguineous Chinese family presenting with HFTC.
- Clinical assessment, imaging, and genetic sequencing were employed to identify the underlying cause.
Findings:
- A novel homozygous G to A substitution (c.1626 + 1G > A) in the GALNT3 gene was identified as the cause of HFTC in the studied family.
- The identified mutation in GALNT3 was inherited from carrier parents, consistent with autosomal recessive inheritance.
Implications:
- This is the first report of HFTC in a consanguineous Chinese family linked to a GALNT3 mutation.
- The findings contribute to the understanding of GALNT3 variants and their role in calcification disorders.
- Gene mutations impacting protein-ligand binding are key mechanisms in the pathogenesis of HFTC.
Related Concept Videos
01:31Translation
14.7K
Translation is the process of synthesizing proteins from the genetic information carried by messenger RNA (mRNA). Following transcription, it constitutes the final step in the expression of genes. This process is carried out by ribosomes, complexes of protein and specialized RNA molecules. Ribosomes, transfer RNA (tRNA), and other proteins produce a chain of amino acids—the polypeptide—as the end product of translation.
Translation Produces the Building Blocks of Life
Proteins are...
Translation Produces the Building Blocks of Life
Proteins are...
14.7K
01:05Cancer-Critical Genes II: Tumor Suppressor Genes
7.3K
Genes usually encode proteins necessary for the proper functioning of a healthy cell. Mutations can often cause changes to the gene expression pattern, thereby altering the phenotype.
When the function of certain critical genes, especially those involved in cell cycle regulation and cell growth signaling cascades, gets disrupted, it upsets the cell cycle progression. Such cells with unchecked cell cycles start proliferating uncontrollably and eventually develop into tumors.
Such genes that act...
When the function of certain critical genes, especially those involved in cell cycle regulation and cell growth signaling cascades, gets disrupted, it upsets the cell cycle progression. Such cells with unchecked cell cycles start proliferating uncontrollably and eventually develop into tumors.
Such genes that act...
7.3K
01:20The Retinoblastoma Gene
4.1K
Tumor suppressor genes are normal genes that can slow down cell division, repair DNA mistakes, or program the cells for apoptosis in case of irreparable damage. Hence, they play an essential role in preventing the proliferation of damaged cells.
The first-ever tumor suppressor gene called Rb was identified in retinoblastoma - a rare eye tumor in children. In inherited forms of the disease, a child inherits one defective copy of the Rb gene, which predisposes them to retinoblastoma. However,...
The first-ever tumor suppressor gene called Rb was identified in retinoblastoma - a rare eye tumor in children. In inherited forms of the disease, a child inherits one defective copy of the Rb gene, which predisposes them to retinoblastoma. However,...
4.1K
02:54Protein Kinases and Phosphatases
13.1K
Proteins undergo chemical modifications that trigger changes in the charge, structure, and conformation of the proteins. Phosphorylation, acetylation, glycosylation, nitrosylation, ubiquitination, lipidation, methylation, and proteolysis are various protein modifications that regulate protein activity. Such modifications are usually enzyme-driven.
Protein kinases
Many proteins in the cell are regulated by phosphorylation, the addition of a phosphate group. A family of enzymes called kinases...
Protein kinases
Many proteins in the cell are regulated by phosphorylation, the addition of a phosphate group. A family of enzymes called kinases...
13.1K
02:38The Ras Gene
6.2K
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...
Ras is a...
6.2K