8p21.3 deletions are rare causes of non-syndromic autism spectrum disorder | Zendy

Nele Cosemans | Zendy; Jarymke Maljaars | Zendy; Annick Vogels | Zendy; Maureen Holvoet | Zendy; Koenraad Devriendt | Zendy; Jean Steyaert | Zendy; Kris Van Den Bogaert | Zendy; Ilse Noens | Zendy; Hilde Peeters | Zendy

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8p21.3 deletions are rare causes of non-syndromic autism spectrum disorder

Author(s) -

Nele Cosemans,

Jarymke Maljaars,

Annick Vogels,

Maureen Holvoet,

Koenraad Devriendt,

Jean Steyaert,

Kris Van Den Bogaert,

Ilse Noens,

Hilde Peeters

Publication year - 2021

Publication title -

neurogenetics

Language(s) - English

Resource type - Journals

SCImago Journal Rank - 0.934

H-Index - 61

eISSN - 1364-6753

pISSN - 1364-6745

DOI - 10.1007/s10048-021-00635-8

Subject(s) - human genetics , autism spectrum disorder , autism , copy number variation , genetics , high resolution , gene , biology , computational biology , medicine , genome , psychiatry , remote sensing , geology

A de novo 0.95 Mb 8p21.3 deletion had been identified in an individual with non-syndromic autism spectrum disorder (ASD) through high-resolution copy number variant analysis. Subsequent screening of in-house and publicly available databases resulted in the identification of six additional individuals with 8p21.3 deletions. Through case-based reasoning, we conclude that 8p21.3 deletions are rare causes of non-syndromic neurodevelopmental and neuropsychiatric disorders. Based on literature data, we highlight six genes within the region of minimal overlap as potential ASD genes or genes for neuropsychiatric disorders: DMTN, EGR3, FGF17, LGI3, PHYHIP, and PPP3CC.

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