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

doi:10.1016/j.jdermsci.2017.12.010

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 journal › Letter › peer-review

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 language	English
Pages (from-to)	90-93
Number of pages	4
Journal	Journal of Dermatological Science
Volume	90
Issue number	1
DOIs	https://doi.org/10.1016/j.jdermsci.2017.12.010
Publication status	Published - 2018 Apr

Keywords

LMX1B
Luciferase reporter assay
Nail patella syndrome

ASJC Scopus subject areas

Biochemistry
Molecular Biology
Dermatology

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10.1016/j.jdermsci.2017.12.010

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

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.",

keywords = "LMX1B, Luciferase reporter assay, Nail patella syndrome",

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

note = "Funding Information: The authors wish to thank the participating family members for their kind collaboration, Satomi Aoki and Showbu Sato for their technical support, and Prof. Brendan Lee for providing plasmids. This work was supported in part by the Practical Research Project for Rare/Intractable Diseases, grants 16ek0109067h0003 and 16ek0109151h0002 , from the Japan Agency for Medical Research and Development . Publisher Copyright: {\textcopyright} 2017 Japanese Society for Investigative Dermatology",

year = "2018",

month = apr,

doi = "10.1016/j.jdermsci.2017.12.010",

language = "English",

volume = "90",

pages = "90--93",

journal = "Journal of Dermatological Science",

issn = "0923-1811",

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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

N1 - Funding Information: The authors wish to thank the participating family members for their kind collaboration, Satomi Aoki and Showbu Sato for their technical support, and Prof. Brendan Lee for providing plasmids. This work was supported in part by the Practical Research Project for Rare/Intractable Diseases, grants 16ek0109067h0003 and 16ek0109151h0002 , from the Japan Agency for Medical Research and Development . Publisher Copyright: © 2017 Japanese Society for Investigative Dermatology

PY - 2018/4

Y1 - 2018/4

N2 - 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.

AB - 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.

KW - LMX1B

KW - Luciferase reporter assay

KW - Nail patella syndrome

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DO - 10.1016/j.jdermsci.2017.12.010

M3 - Letter

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AN - SCOPUS:85042948045

SN - 0923-1811

VL - 90

SP - 90

EP - 93

JO - Journal of Dermatological Science

JF - Journal of Dermatological Science

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ER -

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

Abstract

Keywords

ASJC Scopus subject areas

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