Two novel frameshift mutations in the adrenoleukodystrophy gene in Italian patients
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- 作者：Gomez-Lira ; Macarena ; Perusi ; Chiara ; Mottes ; Monica ; Pignatti ; Pier Franco ; Uziel ; Graziella ; et. al.
- 关键词：Phenotype-genotype ; Frameshift mutations ; ALD
- 刊名：Journal of the Neurological Sciences
- 出版年：1999
- 出版时间：May 1, 1999
- 年：1999
- 卷：165
- 期：1
- 页码：62-65
- 全文大小：261 K
文摘
Two novel frameshift adrenoleukodystrophy mutations in two families were identified: a complex dinucleotide deletion/tetranucleotide insertion at 1116 TC→GAGA (codon 244 [serine]) and an AG deletion at nucleotide 1462 (codon 359 [glutamic acid]). Both mutations are predicted to cause premature termination of protein synthesis. The patients were affected by childhood cerebral adrenoleukodystrophy and by adrenomyeloneuropathy with mild Addison disease, respectively.