期刊
AMERICAN JOURNAL OF HUMAN GENETICS
卷 87, 期 5, 页码 694-700出版社
CELL PRESS
DOI: 10.1016/j.ajhg.2010.10.005
关键词
-
资金
- Israeli Ministry of Health Chief Scientist Foundation [3 4963]
- Israeli Science Foundation [558/09]
Intellectual disability (ID) affects 1%-3% of the general population We recently reported on a family with autosomal recessive mental retardation with anterior maxillary protrusion and strabismus (MRAMS) syndrome One of the reported patients with ID did not have dysmorphic features but did have temporal lobe epilepsy and psychosis We report on the identification of a truncating mutation in the SOBP that is responsible for causing both syndromic and nonsyndromic ID in the same family The protein encoded by the SOBP sine oculis binding protein ortholog, is a nuclear zinc finger protein In mice Sobp (also known as Jxc1) is critical for patterning of the organ of Corti, one of our patients has a subclinical cochlear hearing loss but no gross cochlear abnormalities In situ RNA expression studies in postnatal mouse brain showed strong expression in the limbic system at the time interval of active synaptogenesis The limbic system regulates learning, memory, and affective behavior, but limbic circuitry expression of other genes mutated in ID is unusual By comparing the protein content of the +/Jc to Jc/Jc mice brains with the use of proteomics we detected 24 proteins with greater than 1 5 fold differences in expression including two interacting proteins, dynamin and pacsin1 This study shows mutated SOBP involvement in syndromic and nonsyndromic ID with psychosis in humans
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