ArticleGenetics in medicine : official journal of the American College of Medical Genetics2021
Residual risk for additional recessive diseases in consanguineous couples.
Article in Genetics in medicine : official journal of the American College of Medical Genetics, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 13 papers.
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Who cites it
13 citing papers in PubMed.
- Building genomic medicine in Saudi Arabia.Nature genetics · 2026Article
- Refining rare disease variant discovery in an isolated Andean community through imputation-enhanced IBD and kinship inference from whole exome sequencing data.Human molecular genetics · 2025Article
- Clinical application of next generation sequencing for Mendelian disease diagnosis in the Iranian population.NPJ genomic medicine · 2024Article
- Molecular autopsy by proxy: relevance for genetic counseling in rare genetic disorders.Frontiers in genetics · 2024Article
- BRAT1-related disorders: phenotypic spectrum and phenotype-genotype correlations from 97 patients.European journal of human genetics : EJHG · 2023Article
- Cone dystrophy associated with autoimmune polyglandular syndrome type 1.Scientific reports · 2023Article
- Co-occurrence ofClinical parkinsonism & related disorders · 2023Article
- A founderFrontiers in medicine · 2023Article
- Patterns and distribution of de novo mutations in multiplex Middle Eastern families.Journal of human genetics · 2022Article
- Ethylmalonic encephalopathy masquerading as meningococcemia.Cold Spring Harbor molecular case studies · 2022Article
- Article
- Expanding the Phenotype of theGenes · 2021Article
- Lethal variants in humans: lessons learned from a large molecular autopsy cohort.Genome medicine · 2021Article
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Authors and funding
7 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
purposeConsanguineous couples are typically counseled based on familial pathogenic variants identified in affected children. The residual risk for additional autosomal recessive (AR) variants, however, remains largely understudied.
methodsFirst, we surveyed pedigrees of 1,859 consanguineous families for evidence of more than one AR disease. Second, we mined our database of 1,773 molecularly tested consanguineous families to identify those with more than one AR disease. Finally, we surveyed 88 women from consanguineous unions who have undergone targeted prenatal testing for a familial AR variant and followed the pregnancy outcome (n = 144).
resultsWe found suggestive evidence of more than one AR disease in 1.94% of consanguineous pedigrees surveyed. Of 1,773 molecularly characterized consanguineous families, 2.93% had evidence of at least two AR diseases (3.54% for first cousin or closer and 2.72% for second cousin or more distant). Furthermore, we found that in 2.78% of pregnancies negative for the familial variant, the pregnancy outcome was a child with a different AR disease.
conclusionOur results show that when counseling consanguineous couples for a familial AR variant, ~3% residual risk for additional AR variants should be discussed. This suggests that a broader testing strategy in consanguineous couples should be considered.
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