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 cas...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.展开更多
基金Cultivating funding of the First Affiliated Hospital of Chongqing Medical University(PYJJ2017-33)
文摘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.
