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Enrichment of rare ...
Enrichment of rare copy number variation in children with developmental language disorder
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- Kalnak, N. (författare)
- Karolinska Institutet,Karolinska Institute,Lund University,Lunds universitet,Enheten för klinisk forskning om utagerande beteenden och utvecklingsrelaterad psykopatologi,Forskargrupper vid Lunds universitet,Lund Clinical Research on Externalizing and Developmental psychopathology (LU-CRED),Lund University Research Groups,Karolinska University Hospital
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- Stamouli, S. (författare)
- Stockholm County Council,Karolinska Institute
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- Peyrard-Janvid, M. (författare)
- Karolinska Institute
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- Rabkina, I. (författare)
- Stockholm County Council,Karolinska Institute
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- Becker, M. (författare)
- Karolinska Institutet,Stockholm County Council,Karolinska Institute
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- Klingberg, T. (författare)
- Karolinska Institutet,Karolinska Institute
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- Kere, J. (författare)
- Karolinska Institutet,Karolinska Institute,University of Helsinki,Folkhälsan Research Center,King's College London
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- Forssberg, H. (författare)
- Karolinska Institutet
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- Tammimies, K. (författare)
- Stockholm County Council,Karolinska Institute
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(creator_code:org_t)
- 2018-06-25
- 2018
- Engelska 8 s.
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Ingår i: Clinical Genetics. - : Wiley. - 0009-9163 .- 1399-0004. ; 94:3-4, s. 313-320
- Relaterad länk:
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http://dx.doi.org/10...
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https://lup.lub.lu.s...
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https://doi.org/10.1...
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http://kipublication...
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Abstract
Ämnesord
Stäng
- 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.
Ämnesord
- MEDICIN OCH HÄLSOVETENSKAP -- Klinisk medicin -- Psykiatri (hsv//swe)
- MEDICAL AND HEALTH SCIENCES -- Clinical Medicine -- Psychiatry (hsv//eng)
- MEDICIN OCH HÄLSOVETENSKAP -- Medicinska och farmaceutiska grundvetenskaper -- Medicinsk genetik (hsv//swe)
- MEDICAL AND HEALTH SCIENCES -- Basic Medicine -- Medical Genetics (hsv//eng)
Nyckelord
- 16p11.2 deletion syndrome
- copy number variation
- developmental language disorder
- genetic testing
Publikations- och innehållstyp
- art (ämneskategori)
- ref (ämneskategori)
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