Related Experiment Video
Updated: Jun 2, 2025
03:45
Investigating the Pathogenesis of MYH7 Mutation Gly823Glu in Familial Hypertrophic Cardiomyopathy using a Mouse Model
Published on: August 8, 2022
3.0K
KMT2C Polymorphism in Familial Hypospadias
Sourabh Kumar1, Jyoti Sharma1, Rahila Sardar2
1Department of Pediatric Surgery, All India Institute of Medical Sciences, New Delhi, 110029, India.
Indian Journal of Pediatrics
|January 15, 2025
Summary
This study investigated KMT2C gene variations in a Yemeni family with hypospadias. Findings suggest a complex genetic basis for this congenital anomaly, involving multiple genes and factors.
Area of Science:
- Human Genetics
- Developmental Biology
- Medical Genomics
Background:
- Hypospadias is a common congenital anomaly of male genitalia with high heritability.
- Familial recurrence is observed, especially in consanguineous populations, indicating a genetic component.
- Understanding the genetic underpinnings is crucial for diagnosis and counseling.
Purpose of the Study:
- To investigate the role of KMT2C gene polymorphisms in hypospadias etiology.
- To identify genetic variants and interactions in a Yemeni family with affected siblings.
- To explore the multifactorial nature of hypospadias.
Main Methods:
- Comprehensive single nucleotide polymorphism (SNP) analysis of the KMT2C gene.
- Family-based genetic analysis to identify shared and de novo variants.
- Bioinformatic analysis to predict the functional impact of identified mutations.
Main Results:
- Identified 475 unique SNPs in KMT2C, with 59 shared between parents.
- Detected a deleterious BAHD1 mutation and a de novo variant (rs201834857) associated with Kleefstra syndrome 2.
- Noted interactions between KMT2C and genes involved in sex differentiation (MAP3K1, ATRX, CHD7).
Conclusions:
- KMT2C polymorphisms and interactions with other genes contribute to hypospadias.
- Hypospadias likely results from a multifactorial etiology involving genetic, epigenetic, and environmental factors.
- Further research is needed to fully elucidate the complex genetic architecture of hypospadias.
Related Concept Videos
01:35Pedigree Analysis
83.9K
Overview
83.9K
01:43Sex-linked Disorders
100.2K
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.
100.2K
01:19X-linked Traits
53.2K
In most mammalian species, females have two X sex chromosomes and males have an X and Y. As a result, mutations on the X chromosome in females may be masked by the presence of a normal allele on the second X. In contrast, a mutation on the X chromosome in males more often causes observable biological defects, as there is no normal X to compensate. Trait variations arising from mutations on the X chromosome are called “X-linked”.
53.2K
01:43Incomplete Dominance
21.3K
Gregor Mendel's work (1822 - 1884) was primarily focused on pea plants. Through his initial experiments, he determined that every gene in a diploid cell has two variants called alleles inherited from each parent. He suggested that amongst these two alleles, one allele is dominant in character and the other recessive. The combination of alleles determines the phenotype of a gene in an organism.
21.3K
01:39Epistasis
45.6K
In addition to multiple alleles at the same locus influencing traits, numerous genes or alleles at different locations may interact and influence phenotypes in a phenomenon called epistasis. For example, rabbit fur can be black or brown depending on whether the animal is homozygous dominant or heterozygous at a TYRP1 locus. However, if the rabbit is also homozygous recessive at a locus on the tyrosinase gene (TYR), it will have an unshaded coat that appears white, regardless of its TYRP1...
45.6K
01:31Translation
141.4K
Lesson: Translation
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...
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...
141.4K