LRFN5 locus structure is associated with autism and influenced by the sex of the individual and locus conversions.
Helle Lybaek, Michael Robson, Nicole de Leeuw and 8 others
PMID 35088940WHAT IT FOUND
A maternally inherited LRFN5 marker was found in autistic males in families, but also in unaffected relatives.
The study reports genetic locus structure, not a clinical test or treatment.
Key findings
01In two families, nine people carried the A-haplotype; four of five males had autism and four of four SRY-negative carriers were normal.
02Fibroblast chromatin showed more H3K9me3 heterochromatin around LRFN5 in males than females, but individual profiles overlapped.
03A common 60 kb deletion had too few heterozygotes in all cohorts, with 20%, 24%, and 26% loss in patient cohorts and 80% in a student cohort.
STILL TO COME
How it was doneWhat they found
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What it does not show
The autism association comes from two families and four autistic brothers, so it is a segregation finding, not a general diagnostic marker. The A-haplotype was also carried by normal mothers and a normal maternal uncle, so it is not sufficient to cause autism. Chromatin and 3D structure were measured in skin fibroblasts, not brain cells, so relevance to neural function is uncertain. Blood methylation tests did not show the sex difference seen in fibroblast chromatin. The deletion distribution analysis does not show that the deletion causes developmental disorders; it mainly suggests frequent allelic conversion. The monoallelic expression idea rests on a single preliminary fetal brain experiment.
Declared interests
The supplied text does not list author conflicts. It lists non-U.S. government research support and regional ethics approvals for the studies.
The easy way to misread this
Do not read the A-haplotype as a clinical autism test or cause. It was carried by autistic males and also by unaffected mothers and a normal maternal uncle, and the study did not test therapy.