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

Kalnak, N. LU ; Stamouli, S. ; Peyrard-Janvid, M. ; Rabkina, I. ; Becker, M. ; Klingberg, T. ; Kere, J. ; Forssberg, H. and Tammimies, K. (2018) In Clinical Genetics 94(3-4). p.313-320
Abstract

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)

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.

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author
; ; ; ; ; ; ; and
organization
publishing date
type
Contribution to journal
publication status
published
subject
keywords
16p11.2 deletion syndrome, copy number variation, developmental language disorder, genetic testing
in
Clinical Genetics
volume
94
issue
3-4
pages
8 pages
publisher
Wiley-Blackwell
external identifiers
  • scopus:85053004871
  • pmid:29851021
ISSN
0009-9163
DOI
10.1111/cge.13389
language
English
LU publication?
yes
id
1d69c86e-58f9-47f1-84c4-b90a133af6c0
date added to LUP
2018-10-09 14:37:17
date last changed
2021-10-06 04:38:50
@article{1d69c86e-58f9-47f1-84c4-b90a133af6c0,
  abstract     = {<p>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.</p>},
  author       = {Kalnak, N. and Stamouli, S. and Peyrard-Janvid, M. and Rabkina, I. and Becker, M. and Klingberg, T. and Kere, J. and Forssberg, H. and Tammimies, K.},
  issn         = {0009-9163},
  language     = {eng},
  number       = {3-4},
  pages        = {313--320},
  publisher    = {Wiley-Blackwell},
  series       = {Clinical Genetics},
  title        = {Enrichment of rare copy number variation in children with developmental language disorder},
  url          = {http://dx.doi.org/10.1111/cge.13389},
  doi          = {10.1111/cge.13389},
  volume       = {94},
  year         = {2018},
}