Enrichment of rare copy number variation in children with developmental language disorder
(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
- Kalnak, N. LU ; Stamouli, S. ; Peyrard-Janvid, M. ; Rabkina, I. ; Becker, M. ; Klingberg, T. ; Kere, J. ; Forssberg, H. and Tammimies, K.
- organization
- publishing date
- 2018
- 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
- 2024-06-10 19:25:20
@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}},
keywords = {{16p11.2 deletion syndrome; copy number variation; developmental language disorder; genetic testing}},
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}},
}