Hemizygous deletion of the HPC-1/syntaxin 1A gene (STX1A) in patients with Williams syndrome.
HPC-1/syntaxin 1A is a membrane protein that plays an important role in exocytosis of neurotransmitters from neuronal cells. We previously mapped the human HPC-1/syntaxin 1A gene (STX1A) to chromosome 7q11.2, which is within the Williams syndrome (WS) region. Here, we performed FISH analysis on 46 patients with WS to examine the relationship between STX1A and WS. Our results showed a hemizygous deletion of the HPC-1/syntaxin 1A gene in each patient, suggesting that the neurological symptoms of WS may be related to the hemizygous deletion of STX1A.
Department of Physiology, Kyorin University School of Medicine, Institute of Medical Science, The University of Tokyo, Tokyo, Japan.
T
T
Nakayama
R
R
Matsuoka
M
M
Kimura
H
H
Hirota
K
K
Mikoshiba
Y
Y
Shimizu
N
N
Shimizu
K
K
Akagawa
D000293:Adolescent; D000328:Adult; D000954:Antigens, Surface / Q000235:genetics*; D002648:Child; D002675:Child, Preschool; D005260:Female; D017353:Gene Deletion; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007223:Infant; D008214:Lymphocytes; D008297:Male; D009419:Nerve Tissue Proteins / Q000235:genetics*; D050827:Syntaxin 1; D018980:Williams Syndrome / Q000235:genetics*
D000954:Antigens, Surface; D009419:Nerve Tissue Proteins; C494212:STX1A protein, human; D050827:Syntaxin 1