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A novel contiguous gene deletion of AVPR2 and ARHGAP4 genes in male dizygotic twins with nephrogenic diabetes insipidus and intellectual disability

✍ Scribed by Lingli Huang; Gemma Poke; Jozef Gecz; Kate Gibson

Book ID
115549416
Publisher
John Wiley and Sons
Year
2012
Tongue
English
Weight
307 KB
Volume
158A
Category
Article
ISSN
1552-4825

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Two novel types of contiguous gene delet
Two novel types of contiguous gene deletion of the AVPR2 and ARHGAP4 genes in unrelated Japanese kindreds with nephrogenic diabetes insipidus
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Study of two families containing individuals with nephrogenic diabetes insipidus (NDI) indicated different types of 21.3 kb and 26.3 kb deletions involving the AVPR2 and ARHGAP4 (RhoGAP C1) genes. In the case of the 21.3 kb deletion, the deletion consensus motif (5Β’ -TGAAGG-3Β’) and polypurine runs,

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The function of small GTPases is fine-tuned by a complex network of regulatory proteins such as GTPase-activating proteins. The C1 gene at Xq28 encodes a protein assumed to function as a Rho GTPase-activating protein (rhoGAP). Characterization of the molecular defect causing X-linked nephrogenic dia