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Mutation in the chr...
Mutation in the chromatin-remodeling factor BAZ1A is associated with intellectual disability
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- Zaghlool, Ammar (författare)
- Uppsala universitet,Institutionen för immunologi, genetik och patologi,Lars Feuk's group
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- Halvardson, Jonatan (författare)
- Uppsala universitet,Genomik
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- Zhao, Jin (författare)
- Uppsala universitet,Genomik
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visa fler...
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Kalushkova, Antonia (författare)
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Konska, Katarzyna (författare)
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Helena, Jernberg-Wiklund (författare)
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Thuresson, Ann-Charlotte (författare)
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- Feuk, Lars (författare)
- Uppsala universitet,Genomik
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visa färre...
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(creator_code:org_t)
- Engelska.
- Relaterad länk:
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https://urn.kb.se/re...
Abstract
Ämnesord
Stäng
- Exome sequencing has led to the identification of mutations in several genes involved in chromatin remodeling in syndromic forms of intellectual disability. Here, we used exome sequencing to identify a single non-synonymous de novo mutation in BAZ1A, encoding the ATP-utilizing chromatin assembly and remodeling factor 1 (ACF1), in a patient with unexplained intellectual disability. ACF1 has been previously reported to bind to the promoter of vitamin D receptor (VDR) regulated genes and suppress their expression in the absence of vitamin D. We found that the mutation in BAZ1A affects the expression of many genes, mainly involved in extra cellular matrix organization, synaptic function and vitamin D3 metabolism. The differential expression of CYP24A, SYNGAP1 and COL1A2 correlates with the clinical diagnosis of the patient. We therefore propose that BAZ1A represents yet another chromatin remodeling gene involved in causing an intellectual disability syndrome.
Ämnesord
- MEDICIN OCH HÄLSOVETENSKAP -- Annan medicin och hälsovetenskap (hsv//swe)
- MEDICAL AND HEALTH SCIENCES -- Other Medical and Health Sciences (hsv//eng)
Nyckelord
- Medicinsk genetik
- Medical Genetics
Publikations- och innehållstyp
- vet (ämneskategori)
- ovr (ämneskategori)