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Your search keyword '"at-risk couples"' showing total 2 results
Start Over Descriptor "at-risk couples" Topic genes, recessive
2 results on '"at-risk couples"'

1. The landscape of autosomal-recessive pathogenic variants in European populations reveals phenotype-specific effects.

Author

Fridman H, Yntema HG, Mägi R, Andreson R, Metspalu A, Mezzavila M, Tyler-Smith C, Xue Y, Carmi S, Levy-Lahad E, Gilissen C, and Brunner HG

Subjects
Cohort Studies, Europe ethnology, Exome genetics, Female, Genetic Testing, Health, Heterozygote, Humans, Intellectual Disability genetics, Male, Consanguinity, Family Characteristics, Genes, Recessive genetics, Genetic Variation genetics, Phenotype, White People genetics
Abstract

The number and distribution of recessive alleles in the population for various diseases are not known at genome-wide-scale. Based on 6,447 exome sequences of healthy, genetically unrelated Europeans of two distinct ancestries, we estimate that every individual is a carrier of at least 2 pathogenic variants in currently known autosomal-recessive (AR) genes and that 0.8%-1% of European couples are at risk of having a child affected with a severe AR genetic disorder. This risk is 16.5-fold higher for first cousins but is significantly more increased for skeletal disorders and intellectual disabilities due to their distinct genetic architecture., (Copyright © 2021 American Society of Human Genetics. Published by Elsevier Inc. All rights reserved.)

Published
2021
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2. The landscape of autosomal-recessive pathogenic variants in European populations reveals phenotype-specific effects

Author

Han G. Brunner, Ephrat Levy-Lahad, Chris Tyler-Smith, Massimo Mezzavila, Christian Gilissen, Reedik Mägi, Andres Metspalu, Yali Xue, Reidar Andreson, Shai Carmi, Hila Fridman, Helger G. Yntema, RS: GROW - R4 - Reproductive and Perinatal Medicine, Klinische Genetica, and MUMC+: DA Klinische Genetica (5)

Subjects
Male, at-risk couples, autosomal recessive disorders, carrier frequency, pre-conception carrier screening, selection, Cohort Studies, Europe, Exome, Female, Genes, Recessive, Genetic Testing, Genetic Variation, Health, Heterozygote, Humans, Intellectual Disability, Whites, Consanguinity, Family Characteristics, Phenotype, Sensory disorders Donders Center for Medical Neuroscience [Radboudumc 12], Genetics (clinical), Genetics, 0303 health sciences, education.field_of_study, 030305 genetics & heredity, Genetic disorder, Metabolic Disorders Radboud Institute for Molecular Life Sciences [Radboudumc 6], GENOME, GENES, GENETICS, Population, Biology, Article, White People, 03 medical and health sciences, All institutes and research themes of the Radboud University Medical Center, medicine, Recessive, Allele, education, Gene, 030304 developmental biology, Carrier signal, Neurodevelopmental disorders Donders Center for Medical Neuroscience [Radboudumc 7], MUTATIONS, medicine.disease, Genetic architecture
Abstract

The number and distribution of recessive alleles in the population for various diseases are not known at genome-wide-scale. Based on 6447 exome-sequences of healthy, genetically-unrelated Europeans of two distinct ancestries, we estimate that every individual is a carrier of at least 2 pathogenic variants in currently known autosomal recessive (AR) genes, and that 0.8-1% of European couples are at-risk of having a child affected with a severe AR genetic disorder. This risk is 16.5-fold higher for first cousins, but is significantly more increased for skeletal disorders and intellectual disabilities due to their distinct genetic architecture.

Published
2021
Full Text
View/download PDF

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