Parental exome analysis identifies shared carrier status for a second recessive disorder in couples with an affected child.
Autosomal recessive
Carrier screening
Consanguineous
Exome sequencing
Preimplantation genetic diagnosis
Secondary findings
Journal
European journal of human genetics : EJHG
ISSN: 1476-5438
Titre abrégé: Eur J Hum Genet
Pays: England
ID NLM: 9302235
Informations de publication
Date de publication:
03 2021
03 2021
Historique:
received:
11
08
2020
accepted:
20
10
2020
revised:
11
10
2020
pubmed:
24
11
2020
medline:
15
1
2022
entrez:
23
11
2020
Statut:
ppublish
Résumé
Consanguinity, commonplace in many regions around the globe, is associated with an increased risk of autosomal recessive (AR) genetic disorders. Consequently, consanguineous couples undergoing preimplantation genetic diagnosis (PGD) for one Mendelian disorder may be at increased risk for a child with a second, unrelated AR genetic disorder. We examined the yield of exome analysis for carrier screening of additional AR disorders, beyond the primary diagnosis, amongst consanguineous vs. non-consanguineous populations. Parental samples from trio exomes of 102 consanguineous families and 105 non-consanguineous controls were evaluated for shared carrier status, after disregarding the primary molecular diagnosis. Results were sub-classified according to disease severity. Secondary shared carrier status for pathogenic and likely pathogenic variants leading to AR disorders of moderate to profound severity was identified in 10/102 (9.8%) consanguineous couples, as compared to 1/105 (0.95%) non-consanguineous couples (χ
Identifiants
pubmed: 33223529
doi: 10.1038/s41431-020-00756-y
pii: 10.1038/s41431-020-00756-y
pmc: PMC7940654
doi:
Types de publication
Journal Article
Langues
eng
Sous-ensembles de citation
IM
Pagination
455-462Références
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