Prenatal Diagnosis of Harlequin Ichthyosis: A Case Report

• 作者: Huang Shuai Li Jun-Nan Wang Xing Xia Qiu-Ling
• 来源期刊: 母胎医学杂志（英文）
• 关键词: Prenatal diagnosis Harlequin ichthyosis Ultrasound Gene Adenosine triphosphate binding cassette transporter, subfamily A, member 12 (ABCA12)
• 年，卷（期）: 2020,（4）
• 所属期刊栏目: Case Report
• 页码范围: 244-247
• 页数: 4页
• 语种: 中文
• DOI: 10.1097/FM9.0000000000000064

摘要

Harlequin ichthyosis is a severe autosomal recessive skin disorder. Most deaths occur within the first few days after birth, and the survivors still have severe chronic skin disease throughout their lives. Almost all cases were associated with a pathogenic variant of adenosine triphosphate binding cassette transporter, subfamily A, member 12 ( ABCA12) gene. We described a case of HI diagnosed by ultrasound examination during the second-trimester and genetic diagnosis reveal two novel heterozygous ABCA12 mutations c.2563-2570delinsGGCAATT, p.(Leu855Glyfs*13), and c.6116delT, p.(Met2039Argfs*8) by the next-generation DNA sequencing, which further enriched our understanding of the pathogenic variation of ABCA12 gene.