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Residual risk for additional recessive diseases in consanguineous couples

Genetics in medicine, 2021-12, Vol.23 (12), p.2448-2454 [Peer Reviewed Journal]

2021. The Author(s), under exclusive licence to the American College of Medical Genetics and Genomics. ;The Author(s), under exclusive licence to the American College of Medical Genetics and Genomics 2021. ;ISSN: 1098-3600 ;EISSN: 1530-0366 ;DOI: 10.1038/s41436-021-01289-5 ;PMID: 34316023

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  • Title:
    Residual risk for additional recessive diseases in consanguineous couples
  • Author: AlAbdi, Lama ; Alrashseed, Shatha ; Alsulaiman, Ahood ; Helaby, Rana ; Imtiaz, Faiqa ; Alhamed, Mohamed ; Alkuraya, Fowzan S
  • Subjects: Disease
  • Is Part Of: Genetics in medicine, 2021-12, Vol.23 (12), p.2448-2454
  • Description: Consanguineous 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. First, 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). We 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. Our 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.
  • Publisher: United States: Elsevier Limited
  • Language: English
  • Identifier: ISSN: 1098-3600
    EISSN: 1530-0366
    DOI: 10.1038/s41436-021-01289-5
    PMID: 34316023
  • Source: ProQuest Central
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