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, Takashi Sasaki, Fumiyo Yasuda-Sekiguchi, Tsuyoshi Isojima, Sachiko Kitanaka, Masayuki Amagai, Akiharu Kubo

研究成果: Letter

3 引用 (Scopus)

抜粋

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.

元の言語English
ページ(範囲)90-93
ページ数4
ジャーナルJournal of Dermatological Science
90
発行部数1
DOI
出版物ステータスPublished - 2018 4 1

ASJC Scopus subject areas

  • Biochemistry
  • Molecular Biology
  • Dermatology

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