RGD Reference Report - Serotonin transporter missense mutation associated with a complex neuropsychiatric phenotype. - Rat Genome Database

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Serotonin transporter missense mutation associated with a complex neuropsychiatric phenotype.

Authors: Ozaki, N  Goldman, D  Kaye, WH  Plotnicov, K  Greenberg, BD  Lappalainen, J  Rudnick, G  Murphy, DL 
Citation: Ozaki N, etal., Mol Psychiatry. 2003 Nov;8(11):933-6.
RGD ID: 1624295
Pubmed: PMID:14593431   (View Abstract at PubMed)
DOI: DOI:10.1038/sj.mp.4001365   (Journal Full-text)

Two common serotonin transporter (SERT) untranslated region gene variants have been intensively studied, but remain inconclusively linked to depression and other neuropsychiatric disorders. We now report an uncommon coding region SERT mutation, Ile425Val, in two unrelated families with OCD and other serotonin-related disorders. Six of the seven family members with this mutation had OCD (n=5) or obsessive-compulsive personality disorder (n=1) and some also met diagnostic criteria for multiple other disorders (Asperger's syndrome, social phobia, anorexia nervosa, tic disorder and alcohol and other substance abuse/dependence). The four most clinically affected individuals--the two probands and their two slbs--had the I425V SERT gene gain-of-function mutation and were also homozygous for 5'-UTR SERT gene variant with greater transcriptional efficacy.

RGD Manual Disease Annotations    Click to see Annotation Detail View
TermQualifierEvidenceWithReferenceNotesSourceOriginal Reference(s)
obsessive-compulsive disorder  IAGP 1624295OCD1 more ...RGD 
obsessive-compulsive disorder  ISOSLC6A4 (Homo sapiens)1624295; 1624295OCD1 more ...RGD 

Objects Annotated

Genes (Rattus norvegicus)
Slc6a4  (solute carrier family 6 member 4)

Genes (Mus musculus)
Slc6a4  (solute carrier family 6 (neurotransmitter transporter, serotonin), member 4)

Genes (Homo sapiens)
SLC6A4  (solute carrier family 6 member 4)


Additional Information