Further exploration of cardiac channelopathy and cardiomyopathy genes in stillbirth

Dolanc Merc, Maja (avtor), Kotnik, Urška (avtor), Peterlin, Borut (avtor), Lovrečić, Luca (avtor)

Objective: To explore genetic variation including whole genome copy number variation and sequence analysis of 98 genes associated with pediatric or adult cardiomyopathies, cardiac channelopathies, and sudden death in an unexplained intrauterine fetal death cohort. Methods: The study population included 55 stillbirth cases that remained unexplained after thorough postmortem examination, excluding maternal, fetal, and placental causes of stillbirth. Molecular karyotyping was performed in 55 cases and the trio exome sequencing approach was applied in 19 cases. Results: The analysis revealed six rare variants with predicted effects on protein function in six genes (CASQ2, DSC2, KCNE1, LDB3, MYH6, and SCN5A) previously reported in cases of stillbirth or severe early onset pediatric cardiac related phenotypes. When applying strict American College of Genetics and Genomics classification guidelines, these are still variants of uncertain significance. Conclusions: Several potentially stillbirth‐related genetic variants were detected in our cohort, adding to the growing literature on cardiac phenotype gene variation in stillbirth. However, the mechanisms of action, gene‐gene interaction, and contribution of the uterine environment are still to be deciphered. In order to advance our knowledge of the genetics of unexplained fetal death, there is an evident need for international collaboration and field standardization.

• Jezik: Angleški jezik
• Ključne besede: stillbirth, genetic approach
• Vrsta gradiva: Članek v reviji
• Tipologija: 1.01 - Izvirni znanstveni članek
• Organizacija: MF - Medicinska fakulteta
• Status publikacije: Objavljeno
• Različica publikacije: Objavljena publikacija
• Leto izida: 2024
• Št. strani: Str. 1062–1072
• Številčenje: Vol. 44, iss. 9
• PID: 20.500.12556/RUL-160181
• UDK: 575
• ISSN pri članku: 0197-3851
• DOI: 10.1002/pd.6616
• COBISS.SI-ID: 202250499
• Datum objave v RUL: 22.08.2024

Gradivo je del revije

• Naslov: Prenatal diagnosis
• Skrajšan naslov: Prenat. diagn.
• Založnik: Wiley
• ISSN: 0197-3851
• COBISS.SI-ID: 26168320

Licence

• Licenca: CC BY-NC-ND 4.0, Creative Commons Priznanje avtorstva-Nekomercialno-Brez predelav 4.0 Mednarodna
• Povezava: http://creativecommons.org/licenses/by-nc-nd/4.0/deed.sl
• Opis: Najbolj omejujoča licenca Creative Commons. Uporabniki lahko prenesejo in delijo delo v nekomercialne namene in ga ne smejo uporabiti za nobene druge namene.