Autozygome and high throughput confirmation of disease genes candidacy

Genetics in Medicine : Official Journal of the American College of Medical Genetics
Sateesh MaddirevulaFowzan S Alkuraya

Abstract

Establishing links between Mendelian phenotypes and genes enables the proper interpretation of variants therein. Autozygome, a rich source of homozygous variants, has been successfully utilized for the high throughput identification of novel autosomal recessive disease genes. Here, we highlight the utility of the autozygome for the high throughput confirmation of previously published tentative links to diseases. Autozygome and exome analysis of patients with suspected Mendelian phenotypes. All variants were classified according to the American College of Medical Genetics and Genomics guidelines. We highlight 30 published candidate genes (ACTL6B, ADAM22, AGTPBP1, APC, C12orf4, C3orf17 (NEPRO), CENPF, CNPY3, COL27A1, DMBX1, FUT8, GOLGA2, KIAA0556, LENG8, MCIDAS, MTMR9, MYH11, QRSL1, RUBCN, SLC25A42, SLC9A1, TBXT, TFG, THUMPD1, TRAF3IP2, UFC1, UFM1, WDR81, XRCC2, ZAK) in which we identified homozygous likely deleterious variants in patients with compatible phenotypes. We also identified homozygous likely deleterious variants in 18 published candidate genes (ABCA2, ARL6IP1, ATP8A2, CDK9, CNKSR1, DGAT1, DMXL2, GEMIN4, HCN2, HCRT, MYO9A, PARS2, PLOD3, PREPL, SCLT1, STX3, TXNRD2, WIPI2) although the associated phenotypes are sufficien...Continue Reading

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Citations

Sep 7, 2019·European Journal of Human Genetics : EJHG·Isabel Filges, Petter Stromme
Jan 7, 2020·American Journal of Medical Genetics. Part a·Louise Amlie-WolfMitchell Simon
Jan 9, 2020·American Journal of Medical Genetics. Part a·Laura PölslerSabine Rudnik-Schöneborn
Jun 24, 2020·American Journal of Medical Genetics. Part a·Nada Alsahan, Fowzan S Alkuraya
May 8, 2020·European Journal of Human Genetics : EJHG·Claudia Gonzaga-JaureguiJames R Lupski
Feb 15, 2020·Genetics in Medicine : Official Journal of the American College of Medical Genetics·Hanan E ShamseldinFowzan S Alkuraya
Apr 22, 2020·Proceedings of the National Academy of Sciences of the United States of America·Wendy WenderskiJoseph G Gleeson
Jun 25, 2019·European Journal of Human Genetics : EJHG·Ange-Line BruelChristel Thauvin-Robinet
May 21, 2020·Disease Models & Mechanisms·Rebecca YarwoodMartin Lowe
Sep 25, 2020·Experimental Dermatology·Antti M Salo, Johanna Myllyharju
Jan 19, 2021·Frontiers in Genetics·Sateesh MaddirevulaFowzan S Alkuraya
Jan 6, 2021·Proceedings of the National Academy of Sciences of the United States of America·Yuko FukataMasaki Fukata
Dec 29, 2020·European Journal of Medical Genetics·Chisei SatohKoh-Ichiro Yoshiura
Apr 25, 2021·Kidney International·Johannes S Schlöndorff
Feb 26, 2021·Clinical Genetics·Maian RoifmanDavid Chitayat
May 9, 2021·Human Genome Variation·Jong Seop KimTae-Joon Cho
Jun 6, 2021·Neuropharmacology·Yuko FukataMasaki Fukata
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Oct 15, 2021·Genome Medicine·Hanan E ShamseldinFowzan S Alkuraya

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Methods Mentioned

BETA
exome sequencing

Software Mentioned

ClinGen
SIFT
PolyPhen
CADD

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