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DETECTION METHOD FOR WAARDENBURG ANOPHTHALMIA SYNDROME
DETECTION METHOD FOR WAARDENBURG ANOPHTHALMIA SYNDROME
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机译：沃登堡氏综合症的检测方法
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摘要
PROBLEM TO BE SOLVED: To provide a detection method for Waardenburg anophthalmia syndrome by the genetic testing.SOLUTION: The detection method for Waardenburg anophthalmia syndrome includes the step for checking the presence or absence of loss-of-function mutations in the SMOC1 gene in cells taken from humans. The loss-of-function mutation means that a nonsense mutation, a frameshift mutation, a point mutation accompanying amino acid substitution, or a plurality of the point mutations, are present in either one of exon regions. In other words, the loss-of-function mutation means a mutation or the like in which a base of at least one end of at least either one of intron regions is substituted. Hence, it is possible to achieve the first definite diagnosis of Waardenburg anophthalmia syndrome by the genetic testing.
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