A familial case of nail patella syndrome with a heterozygous in-frame indel mutation in the LIM domain of LMX1B

Miho Mukai, Harumi Fujita, Noriko Umegaki-Arao, Takashi Sasaki, Fumiyo Yasuda-Sekiguchi, Tsuyoshi Isojima, Sachiko Kitanaka, Masayuki Amagai, Akiharu Kubo

Research output: Contribution to journalLetter

3 Citations (Scopus)

Abstract

Nail patella syndrome is a autosomal dominant disorder caused by a genetic alteration in LMX1B. We identified a novel heterozygous in-frame indel mutation of LMX1B in a family of Nail patella syndrome. Impaired transcriptional activity but not dominant negative effect of mutant LMX1B were revealed using a transcriptional reporter assay, indicating that the mutation caused nail patella syndrome in this family via haploinsufficiency of the transcriptional activity of LMX1B.

Original languageEnglish
Pages (from-to)90-93
Number of pages4
JournalJournal of Dermatological Science
Volume90
Issue number1
DOIs
Publication statusPublished - 2018 Apr

Keywords

  • LMX1B
  • Luciferase reporter assay
  • Nail patella syndrome

ASJC Scopus subject areas

  • Biochemistry
  • Molecular Biology
  • Dermatology

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