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aas.aanda.org | ||
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www.eas-journal.org
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| | | | | EAS Publications Series, Diffusion of papers of general interest in astronomy: proceedings of conferences, monographs... | |
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www.swsc-journal.org
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| | | | | Journal of Space Weather and Space Climate, a link between all the communities involved in Space Weather and in Space Climate | |
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www.aanda.org
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| | | | | Astronomy & Astrophysics (A&A) is an international journal which publishes papers on all aspects of astronomy and astrophysics | |
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digitalcommons.wustl.edu
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| | | BACKGROUNDS: While many studies agree that consanguinity increases the rate of congenital heart disease (CHD), few genome analyses have been conducted with consanguineous CHD cohorts. METHODS: We recruited 73 CHD probands from consanguineous families in Turkey and used whole-exome sequencing (WES) to identify genetic lesions in these patients. RESULTS: On average, each patient had 6.95 rare damaging homozygous variants, 0.68 of which are loss-of-function (LoF) variants. Seven patients (9.6%) carried damaging homozygous variants in five causal CHD genes. Six of those patients exhibited laterality defects (six HTX and one D-TGA). Three additional patients (4.1%) harbored other types of CHD-associated genomic alterations, which overall explained 13.7% (10/73) of the cohort. The contribution from recessive variants in our cohort is higher than 1.8% reported from a cohort of 2871 CHD subjects where 5.6% of subjects met the criteria for consanguinity. CONCLUSIONS: Our WES screen of a Turkish consanguineous population with structural CHD revealed its unique genetic architecture. Six of seven damaging homozygous variants in CHD causal genes occur in the setting of laterality defects implies a strong contribution from consanguinity to these defects specifically. Our study thus provided valuable information about the genetic landscape of CHD in consanguineous families in Turkey. | ||
