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Mitral Stenosis I: Introduction01:22

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The development of the human heart, a crucial organ, commences from the mesoderm on the 18th or 19th day after fertilization. This process initiates in the cardiogenic area, a group of mesodermal cells at the embryo's head end, which evolves into elongated strands known as cardiogenic cords. These cords undergo a transformation to form hollow-centered endocardial tubes.
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Related Experiment Video

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A Pipeline to Characterize Structural Heart Defects in the Fetal Mouse
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A Prevalent TMEM260 Deletion Causes Conotruncal Heart Defects, Including Truncus Arteriosus.

Naoya Saijo1, Hisao Yaoita1, Jun Takayama2,3,4,5

  • 1Department of Pediatrics, Tohoku University Graduate School of Medicine, Sendai, Japan.

American Journal of Medical Genetics. Part A
|October 19, 2024
PubMed
Summary

Genetic variants in TMEM260 are a leading cause of truncus arteriosus (TA) in Japan, potentially explaining over half of TA cases. This finding highlights TMEM260

Keywords:
TMEM260TMEM260 Keio‐Tohoku variantJapanese populationcongenital heart diseaseconotruncal heart defectsdouble‐outlet right ventricletruncus arteriosus

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Area of Science:

  • Genetics
  • Cardiology
  • Developmental Biology

Background:

  • Conotruncal heart defects, including truncus arteriosus (TA), are severe congenital malformations.
  • The 22q11.2 deletion syndrome is a known contributor to TA, but other major causes remain elusive.
  • TMEM260 was recently identified as a significant cause of TA in the Japanese population.

Purpose of the Study:

  • To investigate TMEM260 as a potential major genetic cause of TA in the Japanese population.
  • To identify novel TMEM260 variants and assess their prevalence and phenotypic spectrum.
  • To evaluate the role of TMEM260 in familial cases of TA and related conotruncal defects.

Main Methods:

  • Genetic analysis of a family with TA and double-outlet right ventricle (DORV).
  • Identification and characterization of compound heterozygous TMEM260 variants, including a large deletion and a nonsense mutation.
  • Population-based allele frequency analysis of identified TMEM260 variants in the Japanese population.

Main Results:

  • A family presented with compound heterozygous TMEM260 variants: a 7066-bp deletion (exons 6-7) and c.1393C>T (p.Gln465*).
  • The allele frequency of the 7066-bp deletion was 0.17% in the Japanese population.
  • Combined with the previously reported c.1617del variant (0.36% allele frequency), TMEM260 variants may account for over 50% of Japanese TA cases.
  • TMEM260 variants were associated with a spectrum of phenotypes, including DORV.

Conclusions:

  • Pathogenic TMEM260 variants are likely the most common genetic cause of TA in the Japanese population.
  • TMEM260 mutations explain a significant proportion of TA cases and a range of conotruncal heart defects.
  • Genetic testing for TMEM260 variants is valuable for diagnosing Japanese patients with TA and related congenital heart disease.