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Sökning: onr:"swepub:oai:gup.ub.gu.se/236403" > CNTN6 mutations are...
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| Fältnamn | Indikatorer | Metadata |
|---|---|---|
| 000 | 05110naa a2200781 4500 | |
| 001 | oai:gup.ub.gu.se/236403 | |
| 003 | SwePub | |
| 008 | 240410s2017 | |||||||||||000 ||eng| | |
| 009 | oai:lup.lub.lu.se:7bb229de-0d6d-49a7-b570-5d91a4dd4307 | |
| 024 | 7 | a https://gup.ub.gu.se/publication/2364032 URI |
| 024 | 7 | a https://doi.org/10.1038/mp.2016.612 DOI |
| 024 | 7 | a https://lup.lub.lu.se/record/7bb229de-0d6d-49a7-b570-5d91a4dd43072 URI |
| 040 | a (SwePub)gud (SwePub)lu | |
| 041 | a eng | |
| 042 | 9 SwePub | |
| 072 | 7 | a ref2 swepub-contenttype |
| 072 | 7 | a art2 swepub-publicationtype |
| 100 | 1 | a Mercati, Ou Pasteur Institute4 aut |
| 245 | 1 0 | a CNTN6 mutations are risk factors for abnormal auditory sensory perception in autism spectrum disorders. |
| 264 | c 2016-05-10 | |
| 264 | 1 | b Springer Science and Business Media LLC,c 2017 |
| 520 | a Contactin genes CNTN5 and CNTN6 code for neuronal cell adhesion molecules that promote neurite outgrowth in sensory-motor neuronal pathways. Mutations of CNTN5 and CNTN6 have previously been reported in individuals with autism spectrum disorders (ASDs), but very little is known on their prevalence and clinical impact. In this study, we identified CNTN5 and CNTN6 deleterious variants in individuals with ASD. Among the carriers, a girl with ASD and attention-deficit/hyperactivity disorder was carrying five copies of CNTN5. For CNTN6, both deletions (6/1534 ASD vs 1/8936 controls; P=0.00006) and private coding sequence variants (18/501 ASD vs 535/33480 controls; P=0.0005) were enriched in individuals with ASD. Among the rare CNTN6 variants, two deletions were transmitted by fathers diagnosed with ASD, one stop mutation CNTN6(W923X) was transmitted by a mother to her two sons with ASD and one variant CNTN6(P770L) was found de novo in a boy with ASD. Clinical investigations of the patients carrying CNTN5 or CNTN6 variants showed that they were hypersensitive to sounds (a condition called hyperacusis) and displayed changes in wave latency within the auditory pathway. These results reinforce the hypothesis of abnormal neuronal connectivity in the pathophysiology of ASD and shed new light on the genes that increase risk for abnormal sensory perception in ASD.Molecular Psychiatry advance online publication, 10 May 2016; doi:10.1038/mp.2016.61. | |
| 650 | 7 | a MEDICIN OCH HÄLSOVETENSKAPx Klinisk medicinx Psykiatri0 (SwePub)302152 hsv//swe |
| 650 | 7 | a MEDICAL AND HEALTH SCIENCESx Clinical Medicinex Psychiatry0 (SwePub)302152 hsv//eng |
| 650 | 7 | a MEDICIN OCH HÄLSOVETENSKAPx Medicinska och farmaceutiska grundvetenskaperx Medicinsk genetik0 (SwePub)301072 hsv//swe |
| 650 | 7 | a MEDICAL AND HEALTH SCIENCESx Basic Medicinex Medical Genetics0 (SwePub)301072 hsv//eng |
| 700 | 1 | a Huguet, Gu Pasteur Institute4 aut |
| 700 | 1 | a Danckaert, Au Pasteur Institute4 aut |
| 700 | 1 | a André-Leroux, Gu Pasteur Institute4 aut |
| 700 | 1 | a Maruani, A4 aut |
| 700 | 1 | a Bellinzoni, M4 aut |
| 700 | 1 | a Rolland, T4 aut |
| 700 | 1 | a Gouder, L4 aut |
| 700 | 1 | a Mathieu, A4 aut |
| 700 | 1 | a Buratti, J4 aut |
| 700 | 1 | a Amsellem, F4 aut |
| 700 | 1 | a Benabou, M4 aut |
| 700 | 1 | a Van-Gils, J4 aut |
| 700 | 1 | a Beggiato, A4 aut |
| 700 | 1 | a Konyukh, M4 aut |
| 700 | 1 | a Bourgeois, J-P4 aut |
| 700 | 1 | a Gazzellone, M J4 aut |
| 700 | 1 | a Yuen, R K C4 aut |
| 700 | 1 | a Walker, S4 aut |
| 700 | 1 | a Delépine, M4 aut |
| 700 | 1 | a Boland, A4 aut |
| 700 | 1 | a Régnault, B4 aut |
| 700 | 1 | a Francois, M4 aut |
| 700 | 1 | a Van Den Abbeele, T4 aut |
| 700 | 1 | a Mosca-Boidron, A L4 aut |
| 700 | 1 | a Faivre, L4 aut |
| 700 | 1 | a Shimoda, Y4 aut |
| 700 | 1 | a Watanabe, K4 aut |
| 700 | 1 | a Bonneau, D4 aut |
| 700 | 1 | a Råstam, Maria,d 1948u Lund University,Lunds universitet,Gothenburg University,Göteborgs universitet,Gillbergcentrum,Gillberg Neuropsychiatry Centre,Barn- och ungdomspsykiatri,Sektion IV,Institutionen för kliniska vetenskaper, Lund,Medicinska fakulteten,Child and Adolescent Psychiatry,Section IV,Department of Clinical Sciences, Lund,Faculty of Medicine4 aut0 (Swepub:lu)med-mr_ |
| 700 | 1 | a Leboyer, M4 aut |
| 700 | 1 | a Scherer, S W4 aut |
| 700 | 1 | a Gillberg, Christopher,d 1950u University of Gothenburg,Gothenburg University,Göteborgs universitet,Gillbergcentrum,Gillberg Neuropsychiatry Centre4 aut0 (Swepub:gu)xgilch |
| 700 | 1 | a Delorme, R4 aut |
| 700 | 1 | a Cloëz-Tayarani, I4 aut |
| 700 | 1 | a Bourgeron, Thomasu Gothenburg University,Göteborgs universitet,Gillbergcentrum,Gillberg Neuropsychiatry Centre,Pasteur Institute4 aut0 (Swepub:gu)xbouth |
| 710 | 2 | a Pasteur Instituteb Gillbergcentrum4 org |
| 773 | 0 | t Molecular psychiatryd : Springer Science and Business Media LLCg 22q 22x 1476-5578x 1359-4184 |
| 856 | 4 | u https://www.nature.com/articles/mp201661.pdf |
| 856 | 4 | u http://dx.doi.org/10.1038/mp.2016.61y FULLTEXT |
| 856 | 4 8 | u https://gup.ub.gu.se/publication/236403 |
| 856 | 4 8 | u https://doi.org/10.1038/mp.2016.61 |
| 856 | 4 8 | u https://lup.lub.lu.se/record/7bb229de-0d6d-49a7-b570-5d91a4dd4307 |
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