A member of a gene family on Xp22.3, VCX-A, is deleted in patients with X-linked nonspecific mental retardation
X-linked nonspecific mental retardation (MRX) has a frequency of 0.15% in the male population and is caused by defects in several different genes on the human X chromosome. Genotype-phenotype correlations in male patients with a partial nullisomy of the X chromosome have suggested that at least one...
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| Main Authors: | , , , , , , , , , , , , , |
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| Format: | Article (Journal) |
| Language: | English |
| Published: |
2000 Jul 20
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| In: |
The American journal of human genetics
Year: 2000, Volume: 67, Issue: 3, Pages: 563-573 |
| ISSN: | 1537-6605 |
| Online Access: | Verlag, lizenzpflichtig, Volltext: https://www.ncbi.nlm.nih.gov/pmc/articles/PMC1287516/
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| Author Notes: | Maki Fukami, Stefan Kirsch, Simone Schiller, Alexandra Richter, Vladimir Benes, Brunella Franco, Koji Muroya, Ercole Rao, Sabine Merker, Beate Niesler, Andrea Ballabio, Wilhelm Ansorge, Tsutomu Ogata, and Gudrun A. Rappold |
MARC
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| 245 | 1 | 2 | |a A member of a gene family on Xp22.3, VCX-A, is deleted in patients with X-linked nonspecific mental retardation |c Maki Fukami, Stefan Kirsch, Simone Schiller, Alexandra Richter, Vladimir Benes, Brunella Franco, Koji Muroya, Ercole Rao, Sabine Merker, Beate Niesler, Andrea Ballabio, Wilhelm Ansorge, Tsutomu Ogata, and Gudrun A. Rappold |
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| 520 | |a X-linked nonspecific mental retardation (MRX) has a frequency of 0.15% in the male population and is caused by defects in several different genes on the human X chromosome. Genotype-phenotype correlations in male patients with a partial nullisomy of the X chromosome have suggested that at least one locus involved in MRX is on Xp22.3. Previous deletion mapping has shown that this gene resides between markers DXS1060 and DXS1139, a region encompassing ∼1.5 Mb of DNA. Analyzing the DNA of 15 males with Xp deletions, we were able to narrow this MRX critical interval to ∼15 kb of DNA. Only one gene, VCX-A (variably charged, X chromosome mRNA on CRI-S232A), was shown to reside in this interval. Because of a variable number of tandem 30-bp repeats in the VCX-A gene, the size of the predicted protein is 186-226 amino acids. VCX-A belongs to a gene family containing at least four nearly identical paralogues on Xp22.3 (VCX-A, -B, -B1, and -C) and two on Yq11.2 (VCY-D, VCY-E), suggesting that the X and Y copies were created by duplication events. We have found that VCX-A is retained in all patients with normal intelligence and is deleted in all patients with mental retardation. There is no correlation between the presence or absence of VCX-B1, -B, and VCX-C and mental status in our patients. These results suggest that VCX-A is sufficient to maintain normal mental development. | ||
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