A Prevalent TMEM260 Deletion Causes Conotruncal Heart Defects, Including Truncus Arteriosus.
TMEM260
Japanese population
TMEM260 Keio‐Tohoku variant
congenital heart disease
conotruncal heart defects
double‐outlet right ventricle
truncus arteriosus
Journal
American journal of medical genetics. Part A
ISSN: 1552-4833
Titre abrégé: Am J Med Genet A
Pays: United States
ID NLM: 101235741
Informations de publication
Date de publication:
19 Oct 2024
19 Oct 2024
Historique:
revised:
26
09
2024
received:
06
08
2024
accepted:
01
10
2024
medline:
19
10
2024
pubmed:
19
10
2024
entrez:
19
10
2024
Statut:
aheadofprint
Résumé
Conotruncal heart defects are severe congenital malformations of the outflow tract, including truncus arteriosus (TA) and double-outlet right ventricle (DORV). TA is a severe congenital heart disease (CHD) in which the main arterial outflow tract of the heart fails to separate. We recently reported TMEM260 (NM_017799.4), c.1617del (p.Trp539Cysfs*9), as a major cause of TA in the Japanese population (TMEM260 Keio-Tohoku variant) comparable to the prevalence of the 22q11.2 deletion syndrome, which accounts for 12%-35% of TA. However, no other major causes of TA have not been identified. Here, we report a family that included a TA patient and a DORV patient, harboring the compound heterozygous variants of TMEM260, a 7066-bp deletion encompassing exons 6-7 and c.1393C > T, p.(Gln465*). The allele frequency of the 7066-bp deletion was particularly high in the Japanese population (0.17%). Based on the allele frequency of this deletion and c.1617del (0.36%) in the Japanese population, TMEM260 variants might be associated with more than half of the Japanese patients with TA. This study showed that TMEM260 pathogenic variants might be the most common cause of TA in the Japanese population and could explain the wide spectrum of phenotypes associated with TMEM260-related CHD, including DORV, demonstrating the usefulness of genetic testing in Japanese patients with TA.
Identifiants
pubmed: 39425509
doi: 10.1002/ajmg.a.63906
doi:
Types de publication
Case Reports
Journal Article
Langues
eng
Sous-ensembles de citation
IM
Pagination
e63906Subventions
Organisme : Astellas Pharma
Organisme : Japan Agency for Medical Research and Development
ID : JP21tm0124005
Organisme : Japan Agency for Medical Research and Development
ID : JP23tm0424402
Organisme : Miyata Cardiac Research Promotion Foundation
Informations de copyright
© 2024 The Author(s). American Journal of Medical Genetics Part A published by Wiley Periodicals LLC.
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