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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Methods We screened a family affected by long-QT syndrome type 1 and identified an autosomal dominant missense mutation (R190Q) in the KCNQ1 gene.

方法：筛选出患长qt综合征1型的家庭成员，并鉴定KCNQ1基因中一个常染色体显性遗传突变基因(R190 Q)。

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This study also found the dominant GJB2 gene mutations in three families. Finally, corrected the name of a mutation, further enriched the content of GJB2 gene mutations.

本研究同时还发现了GJB2基因突变所致的三个显性遗传家系，最后对一种突变命名进行了校正，进一步丰富了GJB2基因突变相关内容。

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This study also found the dominant GJB2 gene mutations in three families. Finally, corrected the name of a mutation, further enriched the content of GJB2 gene mutations.

本研究同时还发现了GJB2基因突变所致的三个显性遗传家系，最后对一种突变命名进行了校正，进一步丰富了GJB2基因突变相关内容。

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