Genetic association has been found between the LMX1B gene and autism in a Caucasian AGRE cohort (Thanseem et al., 2011), with two SNPs (rs10732392 and rs12336217) showing moderate association with autism with p values of 0.018 and 0.022, respectively, in a transmission disequilibrium test. LMX1B transcripts were found to be significantly lower in the anterior cingulate gyrus region of autism patients compared with controls (p=0.049) in this report.
Molecular Function
This gene encodes a member of the LIM-homeodomain family of proteins containing two N-terminal zinc-binding LIM domains, 1 homeodomain, and a C-terminal glutamine-rich domain. It functions as a transcription factor, and is essential for the normal development of dorsal limb structures, the glomerular basement membrane, the anterior segment of the eye, and dopaminergic and serotonergic neurons.
External Links
References
Type
Title
Type of Disorder
Associated Disorders
Author, Year
Primary
Association of transcription factor gene LMX1B with autism.
Next-generation phenotyping integrated in a national framework for patients with ultrarare disorders improves genetic diagnostics and yields new molecular findings
