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Article

Whole genome sequencing identifies a de novo 2.1 Mb balanced paracentric inversion disrupting FOXP1 and leading to severe intellectual disability.

Clinica chimica acta; international journal of clinical chemistry - 1 Oct 2018

Vuillaume M-L, Cogné B, Jeanne M, Boland A, Ung D-C, Quinquis D, Besnard T, Deleuze J-F, Redon R, Bézieau S, Laumonnier F, Toutain A

Abstract excerpt

The FOXP1 gene, located on chromosome 3p13, encodes the Forkhead-box protein P1, one of the four forkhead transcription factors which repress transcription by forming active homo- and heterodimers and regulate distinct patterns of gene expression crucial for embryogenesis and normal development. FOXP1 mutations, mostly truncating, have been described in patients with mild to moderate intellectual disability (ID),...

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Identifiers

PMID: 29969624
DOI: 10.1016/j.cca.2018.06.048

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FOXP1

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