Take the gene mutation that causes phenylketonuria, or PKU. People with the disease can't break down the amino acid phenylalanine, a problem that can lead to severe cognitive damage.

提取能导致苯丙酮尿症（PKU）的基因突变.患这种病的人不能分解氨基酸苯丙氨酸，这会导致严重的认知损坏。

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Because Schinzel-Giedion was already thought to be caused by a DE novo, dominant mutation, narrowing down the list of candidate genes was slightly different than for inherited, recessive disorders.

由于Schinzel - Giedion早已被认为是由新生显性突变引起的，因此缩小候选基因的列表就与隐性遗传疾病略有不同。

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That's a long way down the line because there may be other negative things that go with that mutation that we don't know about.

沿着这条线走下去将是一条漫长的路，因为可能会有伴随着基因突变的，其他的我们不知道的负面的情况发生。

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