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Updated: Sep 9, 2025

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

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在PRG4基因的框架转移突变导致camptodactyly-arthropathy-coxa vara-pericarditis综合征:一个病例报告

Behich Koyutourk1, Havva Cobanogullari2, Ilke Beyitler3

  • 1Medical Genetics Diagnosis Laboratory, Near East University Hospital, Nicosia, Cyprus.

Modern rheumatology case reports
|August 28, 2025
PubMed
概括

坎普多达基关节病 - 状心膜炎综合征 (CACP) 是一种由PRG4基因突变引起的罕见遗传疾病. 基因检测证实CACP患者最初被错误诊断为青少年异常性关节炎,强调需要精确的基因分析.

关键词:
美国基因突变其他国家全基因组测序

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Removal of an Internal Translational Start Site from mRNA While Retaining Expression of the Full-Length Protein05:48

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Point and Frameshift Mutations01:30

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Point mutations are genetic alterations involving the change of a single nucleotide base pair in DNA. Depending on how the alteration affects protein synthesis, they can lead to various consequences.Point mutations fall into the following types:Silent mutations occur when a nucleotide change does not alter the amino acid sequence due to the redundancy of the genetic code. For instance, changing ACC to ACA still encodes threonine, leaving the protein function unaffected. This occurs because...
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Cardiomyopathy III: Hypertrophic Cardiomyopathy

Hypertrophic cardiomyopathy, or HCM, is an autosomal dominant genetic disorder characterized by asymmetric left ventricular hypertrophy without ventricular dilation. It is more common in men and is typically diagnosed in young, athletic adults.EtiologyHCM is primarily genetic and is caused by mutations in genes encoding sarcomeric proteins. Researchers have identified over 1400 mutations across at least 11 different genes. Among these, the most frequently occurring mutations are found in the...
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Cardiomyopathy IV: Restrictive Cardiomyopathy

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Alternative RNA splicing is the regulated splicing of exons and introns to produce different mature mRNAs from a single pre-mRNA. Unlike in constitutive splicing where a single gene produces a single type of mRNA, alternative splicing allows an organism to produce multiple proteins from a single gene and plays an important role in protein diversity.
There are five types of alternative RNA splicing that vary in the ways the pre-mRNA segments are removed or retained in the mature mRNA. The first...
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