Deciphering the genetic basis of developmental language disorder in children without intellectual disability, autism or apraxia of speech.
Clothilde Ormieres, Marion Lesieur-Sebellin, Karine Siquier-Pernet and 10 others
PMID 39948625WHAT IT FOUND
Genetic testing found pathogenic copy number changes in two families and a pathogenic ZNF292 variant in one sporadic case among 27 children with severe developmental language disorder.
Most familial cases were unresolved, so no single genetic cause applies to most families.
Key findings
01Fifteen families with 27 children had severe isolated developmental language disorder without intellectual disability, autism, or apraxia of speech.
02Two recurrent pathogenic copy number variants were found: a de novo 15q13.3 deletion and a proximal 16p11.2 duplication shared by two affected children and their father.
03A truncating variant in ZNF292 was classified as pathogenic, and the paper reports a diagnostic yield of 20% (3/15 families).
STILL TO COME
How it was doneWhat they foundWhat it means for SLPs
Read the rest of this summary
You get three full summaries a month, free, and we do not ask for a card. Search, the TL;DRs and your library stay unlimited either way.
What it does not show
Only 15 families and 27 children were studied, and the authors state the small sample limits the strength of the findings. Strict criteria excluded intellectual disability, autism, apraxia of speech, moderate to severe hearing loss, and known neurological or genetic disorders, so results may not apply to milder or co-occurring language disorders. Many findings were variants of uncertain significance, and most multiplex families had no resolved cause. Twenty-seven children were enrolled, but 26 affected children were tested by exome or genome sequencing, so one child had only chromosomal microarray. The phenotype evolves with age and rehabilitation, so the genetic associations may not capture later language profiles.
The easy way to misread this
Do not conclude that genetic testing identifies a cause in most families. The paper reports a diagnostic yield of 20% (3/15 families), and most multiplex families remained unresolved.