Article
Autozygosity reveals recessive mutations and novel mechanisms in dominant genes: implications in variant interpretation.
Genetics in medicine : official journal of the American College of Medical Genetics - 1 Oct 2017
Monies Dorota, Maddirevula Sateesh, Kurdi Wesam, Alanazy Mohammed H, Alkhalidi Hisham, Al-Owain Mohammed, Sulaiman Raashda A, Faqeih Eissa, Goljan Ewa, Ibrahim Niema, Abdulwahab Firdous, Hashem Mais, Abouelhoda Mohamed, Shaheen Ranad, Arold Stefan T, Alkuraya Fowzan S
Abstract excerpt
PURPOSE: The purpose of this study is to describe recessive alleles in strictly dominant genes. Identifying recessive mutations in genes for which only dominant disease or risk alleles have been reported can expand our understanding of the medical relevance of these genes both phenotypically and mechanistically. The Saudi population is enriched for autozygosity, which enhances the homozygous occurrence of...
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