A single broken gene reads aloud in several dialects across one Portuguese island family
Peer-Reviewed Publication
Updates every hour. Last Updated: 20-Jun-2026 04:15 ET (20-Jun-2026 08:15 GMT/UTC)
Serious mental illnesses have long been sorted into separate diagnostic boxes, yet they cluster stubbornly within the same families. Researchers examined 173 multiplex families from the Portuguese Island Collection, drawn from the genetically isolated Azores and Madeira. In 28 percent of those families, psychosis and mood disorders co-segregated; in 7 percent, autism and intellectual disability joined the same pedigree. Whole-genome sequencing of one three-generation family uncovered an ultra-rare loss-of-function mutation in CHD2 that appeared as schizophrenia in most carriers and as autism in another. The work argues that founder-population families can expose rare, large-effect variants spanning the diagnostic spectrum.
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