A novel point mutation in the steroid sulfatase gene in X-linked ichthyosis

作者:Morita E*; Katoh O; Shinoda S; Hiragun T; Tanaka T; Kameyoshi Y; Yamamoto S
来源:Journal of Investigative Dermatology, 1997, 109(2): 244-245.
DOI:10.1111/1523-1747.ep12319777

摘要

We analyzed the steroid sulfatase (STS) gene in nine Japanese patients with X-Linked ichthyosis (XLI) by a polymerase chain reaction technique and subsequent DNA sequencing, Eight of nine patients showed complete deletion of the STS gene, In a patient of XLI exhibiting a normal amplifying pattern with predicted sizes of the STS gene, a novel mutation was found resulting in the appearance of a stop codon in exon 7 of the STS gene, This suggests that exon 7 or an area in its downstream region is important for STS activity.

  • 出版日期1997-8

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