A family study implicates GBE1 in the etiology of autism spectrum disorder

M Fanjul-Fernández; NJ Brown; P Hickey; P Diakumis; H Rafehi; K Bozaoglu; CC Green; A Rattray; S Young; D Alhuzaimi; HS Mountford; G Gillies; V Lukic; T Vick; K Finlay; BP Coe; EE Eichler; MB Delatycki; SJ Wilson; M Bahlo; IE Scheffer; PJ Lockhart

Journal article

A family study implicates GBE1 in the etiology of autism spectrum disorder

M Fanjul-Fernández, NJ Brown, P Hickey, P Diakumis, H Rafehi, K Bozaoglu, CC Green, A Rattray, S Young, D Alhuzaimi, HS Mountford, G Gillies, V Lukic, T Vick, K Finlay, BP Coe, EE Eichler, MB Delatycki, SJ Wilson, M Bahlo Show all

Human Mutation | WILEY | Published : 2022

DOI: 10.1002/humu.24289

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Abstract

Autism spectrum disorders (ASD) are neurodevelopmental disorders with an estimated heritability of >60%. Family-based genetic studies of ASD have generally focused on multiple small kindreds, searching for de novo variants of major effect. We hypothesized that molecular genetic analysis of large multiplex families would enable the identification of variants of milder effects. We studied a large multigenerational family of European ancestry with multiple family members affected with ASD or the broader autism phenotype (BAP). We identified a rare heterozygous variant in the gene encoding 1,4-ɑ-glucan branching enzyme 1 (GBE1) that was present in seven of seven individuals with ASD, nine of ten..

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University of Melbourne Researchers

Peter Hickey Author

Haloom Rafehi Author

Kiymet Bozaoglu Author

Martin Delatycki Author

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Awarded by National Institutes of Health

Funding Acknowledgements

National Institutes of Health, Grant/Award Number: R01MH101221; National Health and Medical Research Council, Grant/Award Numbers: 1006110, 1032364, 1044175, 1098255, 1102971, 1104831