Enrichment of rare copy number variation in children with developmental language disorder

N. Kalnak, S. Stamouli, M. Peyrard-Janvid, I. Rabkina, M. Becker, T. Klingberg, J. Kere, H. Forssberg, K. Tammimies

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9 Citations (SciVal)


Developmental language disorder (DLD) is a common neurodevelopmental disorder with largely unknown etiology. Rare copy number variants (CNVs) have been implicated in the genetic architecture of other neurodevelopmental disorders (NDDs), which have led to clinical genetic testing recommendations for these disorders; however, the evidence is still lacking for DLD. We analyzed rare and de novo CNVs in 58 probands with severe DLD, their 159 family members and 76 Swedish typically developing children using high-resolution microarray. DLD probands had larger rare CNVs as measured by total length (P =.05), and average length (P =.04). In addition, the rate of rare CNVs overlapping coding genes was increased (P =.03 and P =.01) and in average more genes were affected (P =.006 and P =.03) in the probands and their siblings, respectively. De novo CNVs were found in 4.8% DLD probands (2/42) and 2.4% (1/42) siblings. Clinically significant CNVs or chromosomal anomalies were found in 6.9% (4/58) of the probands of which 2 carried 16p11.2 deletions. We provide further evidence that rare CNVs contribute to the etiology of DLD in loci that overlap with other NDDs. Based on our results and earlier literature, families with DLD should be offered molecular genetic testing as a routine in their clinical follow-up.

Original languageEnglish
Pages (from-to)313-320
Number of pages8
JournalClinical Genetics
Issue number3-4
Publication statusPublished - 2018

Subject classification (UKÄ)

  • Psychiatry
  • Medical Genetics


  • 16p11.2 deletion syndrome
  • copy number variation
  • developmental language disorder
  • genetic testing


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