We report on two independent alterations of the NF1 gene in a three-generation kindred with neurofibromatosis type 1 (NF1). Using temperature gradient gel electrophoresis (TGGE) in a mutation analysis of exon 31 of the NF1 gene we detected the previously reported nonsense mutation R1947X. This Cto-T
Familial migraine with vertigo: No mutations found in CACNA1A
β Scribed by Kim, Ji-Soo; Yue, Qing; Jen, Joanna C.; Nelson, Stanley F.; Baloh, Robert W.
- Publisher
- John Wiley and Sons
- Year
- 1998
- Tongue
- English
- Weight
- 15 KB
- Volume
- 79
- Category
- Article
- ISSN
- 0148-7299
- DOI
- 10.1002/(sici)1096-8628(19980901)79:2<148::aid-ajmg11>3.0.co;2-j
No coin nor oath required. For personal study only.
β¦ Synopsis
We searched for mutations in the voltagegated calcium channel gene, CACNA1A, in nine propositi of families with migraine headaches and episodic vertigo inherited in an autosomal dominant pattern. All 47 exons and flanking introns in CACNA1A were subjected to single-strand conformation polymorphism analysis of polymerase chain reaction-amplified genomic DNA. Exons with aberrantly migrating fragments were sequenced using standard techniques. We also determined the CAG repeat length at the 3 end of CACNA1A. Several polymorphisms were found but no mutations identified in any of the 47 exons of the 9 patients. No index-case had a CAG repeat length greater than 13 (normal <17). Mutations in CACNA1A are not common in families with migraine headaches and episodic vertigo. Other ion channel genes expressed in the brain and inner ear remain candidate genes.
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