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CNTN6 mutations are risk … - University of Gothenburg, Sweden Till startsida
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CNTN6 mutations are risk factors for abnormal auditory sensory perception in autism spectrum disorders.

Journal article
Authors O Mercati
G Huguet
A Danckaert
G André-Leroux
A Maruani
M Bellinzoni
T Rolland
L Gouder
A Mathieu
J Buratti
F Amsellem
M Benabou
J Van-Gils
A Beggiato
M Konyukh
J-P Bourgeois
M J Gazzellone
R K C Yuen
S Walker
M Delépine
A Boland
B Régnault
M Francois
T Van Den Abbeele
A L Mosca-Boidron
L Faivre
Y Shimoda
K Watanabe
D Bonneau
Maria Råstam
M Leboyer
S W Scherer
Christopher Gillberg
R Delorme
I Cloëz-Tayarani
Thomas Bourgeron
Published in Molecular psychiatry
Volume 22
Pages 625–633
ISSN 1476-5578
Publication year 2017
Published at Gillberg Neuropsychiatry Centre
Pages 625–633
Language en
Subject categories Child and adolescent psychiatry


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.

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