Dataset Information

Autozygome and high throughput confirmation of disease genes candidacy.

ABSTRACT:

Purpose

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.

Methods

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.

Results

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 sufficiently different from the original reports that they represent phenotypic expansion or potentially distinct allelic disorders.

Conclusions

Our results should facilitate the timely relabeling of these candidate disease genes in relevant databases to improve the yield of clinical genomic sequencing.

SUBMITTER: Maddirevula S

PROVIDER: S-EPMC6752307 | biostudies-literature | 2019 Mar

REPOSITORIES: biostudies-literature

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Publications

Autozygome and high throughput confirmation of disease genes candidacy.

Maddirevula Sateesh S Alzahrani Fatema F Al-Owain Mohammed M Al Muhaizea Mohammad A MA Kayyali Husam R HR AlHashem Amal A Rahbeeni Zuhair Z Al-Otaibi Maha M Alzaidan Hamad I HI Balobaid Ameera A El Khashab Heba Y HY Bubshait Dalal K DK Faden Maha M Yamani Suad Al SA Dabbagh Omar O Al-Mureikhi Mariam M Jasser Abdulla Al AA Alsaif Hessa S HS Alluhaydan Iram I Seidahmed Mohammed Zain MZ Alabbasi Bashair Hamza BH Almogarri Ibrahim I Kurdi Wesam W Akleh Hana H Qari Alya A Al Tala Saeed M SM Alhomaidi Suzan S Kentab Amal Y AY Salih Mustafa A MA Chedrawi Aziza A Alameer Seham S Tabarki Brahim B Shamseldin Hanan E HE Patel Nisha N Ibrahim Niema N Abdulwahab Firdous F Samira Menasria M Goljan Ewa E Abouelhoda Mohamed M Meyer Brian F BF Hashem Mais M Shaheen Ranad R AlShahwan Saad S Alfadhel Majid M Ben-Omran Tawfeg T Al-Qattan Mohammad M MM Monies Dorota D Alkuraya Fowzan S FS

Genetics in medicine : official journal of the American College of Medical Genetics 20180921 3

<h4>Purpose</h4>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.<h4>Methods</h4>Autozygome and exome analysis of patients with suspec ...[more]

PMID: 30237576

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Dataset Information

Autozygome and high throughput confirmation of disease genes candidacy.

Purpose

Methods

Results

Conclusions

Publications

Autozygome and high throughput confirmation of disease genes candidacy.

Similar Datasets

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