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Exclusion of the gastrin-releasing peptide receptor (GRPR) locus as a candidate gene for Rett syndrome

✍ Scribed by Heidary, Gena; Hampton, Lori L.; Schanen, N. Carolyn; Rivkin, Michael J.; Darras, Basil T.; Battey, James; Francke, Uta

Publisher: John Wiley and Sons
Year: 1998
Tongue: English
Weight: 14 KB
Volume: 78
Category: Article
ISSN: 0148-7299
DOI: 10.1002/(sici)1096-8628(19980630)78:2<173::aid-ajmg15>3.0.co;2-k

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✦ Synopsis

The gene for the gastrin-releasing peptide receptor (GRPR) has been mapped to a candidate region for Rett syndrome (RTT) on the short arm of the X chromosome. The recent report of a translocation that disrupted the gene in an individual with mental retardation and autistic behavior prompted us to examine GRPR as a possible locus for RTT. Genomic polymerase chain reaction amplification of exons followed by single-strand conformation analysis screening in 25 unrelated RTT-affected individuals and by direct sequencing in 12 others has failed to detect any mutation. No gross structural rearrangements were found by Southern analysis of DNA from six unrelated RTT-affected individuals. A high-frequency biallelic polymorphism caused by two single nucleotide substitutions in exon 2 was discovered. The allele frequencies were identical in the RTT population as compared to 100 normal control X chromosomes. This polymorphism will enable future evaluation of the GRPR locus as a candidate for other X-linked mental retardation or neurobehavioral syndromes. Am.

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