Expert opinion and caution are imperative for interpretation of next generation sequencing data

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• 作者：Isabelle Thiffault
• 关键词：4H leukodystrophy ; POLR3A ; POLR3-related leukodystrophy ; Whole exome sequencing
• 刊名：European Journal of Medical Genetics
• 出版年：2016
• 出版时间：October 2016
• 年：2016
• 卷：59
• 期：10
• 页码：519-521
• 全文大小：183 K

文摘

We comment on the recent publication by Khalifa and Naffa who are reporting a young girl with variants in both WDR45 and POLR3A, which they state contribute to her clinical manifestations. We are arguing in this letter that the clinical, MRI, and genetics findings are not compatible with 4H leukodystrophy and that this patient is not affected by this condition.