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

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 1

Fingerprint

Nail-Patella Syndrome
Nails
Mutation
Haploinsufficiency
Assays

Keywords

  • LMX1B
  • Luciferase reporter assay
  • Nail patella syndrome

ASJC Scopus subject areas

  • Biochemistry
  • Molecular Biology
  • Dermatology

Cite this

A familial case of nail patella syndrome with a heterozygous in-frame indel mutation in the LIM domain of LMX1B. / Mukai, Miho; Fujita, Harumi; Umegaki, Noriko; Sasaki, Takashi; Yasuda-Sekiguchi, Fumiyo; Isojima, Tsuyoshi; Kitanaka, Sachiko; Amagai, Masayuki; Kubo, Akiharu.

In: Journal of Dermatological Science, Vol. 90, No. 1, 01.04.2018, p. 90-93.

Research output: Contribution to journalLetter

Mukai, Miho ; Fujita, Harumi ; Umegaki, Noriko ; Sasaki, Takashi ; Yasuda-Sekiguchi, Fumiyo ; Isojima, Tsuyoshi ; Kitanaka, Sachiko ; Amagai, Masayuki ; Kubo, Akiharu. / A familial case of nail patella syndrome with a heterozygous in-frame indel mutation in the LIM domain of LMX1B. In: Journal of Dermatological Science. 2018 ; Vol. 90, No. 1. pp. 90-93.
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T1 - A familial case of nail patella syndrome with a heterozygous in-frame indel mutation in the LIM domain of LMX1B

AU - Mukai, Miho

AU - Fujita, Harumi

AU - Umegaki, Noriko

AU - Sasaki, Takashi

AU - Yasuda-Sekiguchi, Fumiyo

AU - Isojima, Tsuyoshi

AU - Kitanaka, Sachiko

AU - Amagai, Masayuki

AU - Kubo, Akiharu

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