id:"swepub:oai:prod.swepub.kib.ki.se:150334303"
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| Fältnamn | Indikatorer | Metadata |
|---|---|---|
| 000 | 03231naa a2200529 4500 | |
| 001 | oai:prod.swepub.kib.ki.se:150334303 | |
| 003 | SwePub | |
| 008 | 240701s2022 | |||||||||||000 ||eng| | |
| 024 | 7 | a http://kipublications.ki.se/Default.aspx?queryparsed=id:1503343032 URI |
| 024 | 7 | a https://doi.org/10.3390/ijms231480012 DOI |
| 040 | a (SwePub)ki | |
| 041 | a engb eng | |
| 042 | 9 SwePub | |
| 072 | 7 | a ref2 swepub-contenttype |
| 072 | 7 | a art2 swepub-publicationtype |
| 100 | 1 | a Verberne, EA4 aut |
| 245 | 1 0 | a DNA Methylation Signature for JARID2-Neurodevelopmental Syndrome |
| 264 | c 2022-07-20 | |
| 264 | 1 | b MDPI AG,c 2022 |
| 520 | a JARID2 (Jumonji, AT Rich Interactive Domain 2) pathogenic variants cause a neurodevelopmental syndrome, that is characterized by developmental delay, cognitive impairment, hypotonia, autistic features, behavior abnormalities and dysmorphic facial features. JARID2 encodes a transcriptional repressor protein that regulates the activity of various histone methyltransferase complexes. However, the molecular etiology is not fully understood, and JARID2-neurodevelopmental syndrome may vary in its typical clinical phenotype. In addition, the detection of variants of uncertain significance (VUSs) often results in a delay of final diagnosis which could hamper the appropriate care. In this study we aim to detect a specific and sensitive DNA methylation signature for JARID2-neurodevelopmental syndrome. Peripheral blood DNA methylation profiles from 56 control subjects, 8 patients with (likely) pathogenic JARID2 variants and 3 patients with JARID2 VUSs were analyzed. DNA methylation analysis indicated a clear and robust separation between patients with (likely) pathogenic variants and controls. A binary model capable of classifying patients with the JARID2-neurodevelopmental syndrome was constructed on the basis of the identified episignature. Patients carrying VUSs clustered with the control group. We identified a distinct DNA methylation signature associated with JARID2-neurodevelopmental syndrome, establishing its utility as a biomarker for this syndrome and expanding the EpiSign diagnostic test. | |
| 700 | 1 | a van der Laan, L4 aut |
| 700 | 1 | a Haghshenas, S4 aut |
| 700 | 1 | a Rooney, K4 aut |
| 700 | 1 | a Levy, MA4 aut |
| 700 | 1 | a Alders, M4 aut |
| 700 | 1 | a Maas, SM4 aut |
| 700 | 1 | a Jansen, S4 aut |
| 700 | 1 | a Lieden, Au Karolinska Institutet4 aut |
| 700 | 1 | a Anderlid, BMu Karolinska Institutet4 aut |
| 700 | 1 | a Rafael-Croes, L4 aut |
| 700 | 1 | a Campeau, PM4 aut |
| 700 | 1 | a Chaudhry, A4 aut |
| 700 | 1 | a Koolen, DA4 aut |
| 700 | 1 | a Pfundt, R4 aut |
| 700 | 1 | a Hurst, ACE4 aut |
| 700 | 1 | a Tran-Mau-Them, F4 aut |
| 700 | 1 | a Bruel, AL4 aut |
| 700 | 1 | a Lambert, L4 aut |
| 700 | 1 | a Isidor, B4 aut |
| 700 | 1 | a Mannens, MMAM4 aut |
| 700 | 1 | a Sadikovic, B4 aut |
| 700 | 1 | a Henneman, P4 aut |
| 700 | 1 | a van Haelst, MM4 aut |
| 710 | 2 | a Karolinska Institutet4 org |
| 773 | 0 | t International journal of molecular sciencesd : MDPI AGg 23:14q 23:14x 1422-0067 |
| 856 | 4 8 | u http://kipublications.ki.se/Default.aspx?queryparsed=id:150334303 |
| 856 | 4 8 | u https://doi.org/10.3390/ijms23148001 |
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- Verberne, EA
- van der Laan, L
- Haghshenas, S
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- Maas, SM
- Jansen, S
- Lieden, A
- Anderlid, BM
- Rafael-Croes, L
- Campeau, PM
- Chaudhry, A
- Koolen, DA
- Pfundt, R
- Hurst, ACE
- Tran-Mau-Them, F
- Bruel, AL
- Lambert, L
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