Sommer SS

General

Full name : Steve S Sommer

First name : Steve

Mail : City of Hope National Medical Center

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Country : USA

Email : Stevesqxcv@aol.com

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References (2)

Title : Analysis of the neuroligin 4Y gene in patients with autism - Yan_2008_Psychiatr.Genet_18_204
Author(s) : Yan J , Feng J , Schroer R , Li W , Skinner C , Schwartz CE , Cook EH, Jr. , Sommer SS
Ref : Psychiatr Genet , 18 :204 , 2008
Abstract : Frameshift and missense mutations in the X-linked neuroligin 4 (NLGN4, MIM# 300427) and neuroligin 3 (NLGN3, MIM# 300336) genes have been identified in patients with autism, Asperger syndrome and mental retardation. We hypothesize that sequence variants in NLGN4Y are associated with autism or mental retardation. The coding sequences and splice junctions of the NLGN4Y gene were analyzed in 335 male samples (290 with autism and 45 with mental retardation). A total of 1.1 Mb of genomic DNA was sequenced. One missense variant, p.I679V, was identified in a patient with autism, as well as his father with learning disabilities. The I679 residue is highly conserved in three members of the neuroligin family. The absence of p.I679V in 2986 control Y chromosomes and the high similarity of NLGN4 and NLGN4Y are consistent with the hypothesis that p.I679V contributes to the etiology of autism. The presence of only one structural variant in our population of 335 males with autism/mental retardation, the unavailability of significant family cosegregation and an absence of functional assays are, however, important limitations of this study.
ESTHER : Yan_2008_Psychiatr.Genet_18_204
PubMedSearch : Yan_2008_Psychiatr.Genet_18_204
PubMedID: 18628683
Gene_locus related to this paper: human-NLGN4Y

Title : Analysis of the neuroligin 3 and 4 genes in autism and other neuropsychiatric patients -
Author(s) : Yan J , Oliveira G , Coutinho A , Yang C , Feng J , Katz C , Sram J , Bockholt A , Jones IR , Craddock N , Cook EH, Jr. , Vicente A , Sommer SS
Ref : Mol Psychiatry , 10 :329 , 2005
PubMedID: 15622415
Gene_locus related to this paper: human-NLGN3 , human-NLGN4X