del1254AG_human-NLGN4X

General

Gene Locus : human-NLGN4X

Mode of mutation : Natural mutant

Disease : Neuroligin 4 Autism AUTSX2 Asperger syndrome ASPGX2

Summary : Natural mutation a french family 10 males had nonspecific X-linked mental retardation, 2 had autism and 1 pervasive developmental disorder Laumonnier_2004_Am.J.Hum.Genet_74_552

AAA Change :

Allelic Variant :

Risk Factor :

Inhibitor :

Structure :

Disease by interaction :

Interact Gene Locus :

Xenobiotic sensitivity :

Modification :

Torpedo_number : No torpedo number

Kinetic Parameter : No kinetic parameter

News : No news

Comment :

References (1)

Title : X-linked mental retardation and autism are associated with a mutation in the NLGN4 gene, a member of the neuroligin family - Laumonnier_2004_Am.J.Hum.Genet_74_552
Author(s) : Laumonnier F , Bonnet-Brilhault F , Gomot M , Blanc R , David A , Moizard MP , Raynaud M , Ronce N , Lemonnier E , Calvas P , Laudier B , Chelly J , Fryns JP , Ropers HH , Hamel BC , Andres C , Barthelemy C , Moraine C , Briault S
Ref : American Journal of Human Genetics , 74 :552 , 2004
PubMedID: 14963808
Gene_locus related to this paper: human-NLGN4X