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Updated: Jun 17, 2026

Investigating the Pathogenesis of MYH7 Mutation Gly823Glu in Familial Hypertrophic Cardiomyopathy using a Mouse Model

Investigating the Pathogenesis of MYH7 Mutation Gly823Glu in Familial Hypertrophic Cardiomyopathy using a Mouse Model

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Identifying mutations for MYH-associated polyposis.

Thomas W Prior¹, Scott J Bridgeman

¹Ohio State University, Columbus, Ohio, USA.

Current Protocols in Human Genetics

|January 12, 2010

Summary

This summary is machine-generated.

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Mutations in the MYH gene cause a polyposis syndrome leading to colorectal cancer. Whole-gene sequencing is essential for accurate diagnosis due to diverse and ethnic-specific mutations.

Area of Science:

Genetics
Oncology
Molecular Biology

Background:

Mutations in the MYH gene cause an autosomal recessive syndrome characterized by colorectal adenomas and cancer.
Common MYH mutations (p.Tyr165Cys, p.Glu382Asp) are prevalent in Caucasian populations.
A wide spectrum of MYH mutations exists, with varying frequencies and ethnic differences.

Purpose of the Study:

To describe a sequencing protocol for identifying mutations throughout the MYH gene.
To emphasize the necessity of whole-gene sequencing for maximizing clinical sensitivity in diagnosing MYH-associated polyposis.

Main Methods:

Whole-gene sequencing of the MYH gene.
Identification of mutations across the entire gene sequence.

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Published on: August 20, 2018

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Last Updated: Jun 17, 2026

Investigating the Pathogenesis of MYH7 Mutation Gly823Glu in Familial Hypertrophic Cardiomyopathy using a Mouse Model

Investigating the Pathogenesis of MYH7 Mutation Gly823Glu in Familial Hypertrophic Cardiomyopathy using a Mouse Model

Published on: August 8, 2022

Digital Polymerase Chain Reaction Assay for the Genetic Variation in a Sporadic Familial Adenomatous Polyposis Patient Using the Chip-in-a-tube Format

Digital Polymerase Chain Reaction Assay for the Genetic Variation in a Sporadic Familial Adenomatous Polyposis Patient Using the Chip-in-a-tube Format

Published on: August 20, 2018

Main Results:

The described sequencing protocol enables the identification of mutations throughout the MYH gene.
The study highlights the importance of comprehensive MYH mutation analysis.

Conclusions:

Accurate diagnosis of MYH-associated polyposis requires whole-gene sequencing.
Understanding the diverse mutation spectrum and ethnic variations is crucial for clinical sensitivity.