Exome sequencing in an admixed isolated population indicates NFXL1 variants confer a risk for specific language impairment.

doi:10.1371/journal.pgen.1004925

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Article

Exome sequencing in an admixed isolated population indicates NFXL1 variants confer a risk for specific language impairment.

PLoS genetics - 1 Mar 2015

Villanueva Pía, Nudel Ron, Hoischen Alexander, Fernández María Angélica, Simpson Nuala H, Gilissen Christian, Reader Rose H, Jara Lillian, Echeverry María Magdalena, Echeverry Maria Magdalena, Francks Clyde, Baird Gillian, Conti-Ramsden Gina, O'Hare Anne, Bolton Patrick F, Hennessy Elizabeth R, Palomino Hernán, Carvajal-Carmona Luis, Veltman Joris A, Cazier Jean-Baptiste, De Barbieri Zulema, Fisher Simon E, Newbury Dianne F

Abstract excerpt

Children affected by Specific Language Impairment (SLI) fail to acquire age appropriate language skills despite adequate intelligence and opportunity. SLI is highly heritable, but the understanding of underlying genetic mechanisms has proved challenging. In this study, we use molecular genetic techniques to investigate an admixed isolated founder population from the Robinson Crusoe Island (Chile), who are...

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PMID: 25781923
DOI: 10.1371/journal.pgen.1004925
PMCID: PMC4363375

Genes

NFXL1

Variants

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