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Article

Mutation spectrum of congenital heart disease in a consanguineous Turkish population.

Molecular genetics & genomic medicine - 1 Jun 2022

Dong Weilai, Kaymakcalan Hande, Jin Sheng Chih, Diab Nicholas S, Tanıdır Cansaran, Yalcin Ali Seyfi Yalim, Ercan-Sencicek A Gulhan, Mane Shrikant, Gunel Murat, Lifton Richard P, Bilguvar Kaya, Brueckner Martina

Abstract excerpt

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...

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Identifiers

PMID: 35481623
DOI: 10.1002/mgg3.1944
PMCID: PMC9184665

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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