Literature DB >> 29290531

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

Miho Mukai1, Harumi Fujita2, Noriko Umegaki-Arao1, Takashi Sasaki3, Fumiyo Yasuda-Sekiguchi1, Tsuyoshi Isojima4, Sachiko Kitanaka4, Masayuki Amagai2, Akiharu Kubo5.   

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.
Copyright © 2017 Japanese Society for Investigative Dermatology. Published by Elsevier B.V. All rights reserved.

Entities:  

Keywords:  LMX1B; Luciferase reporter assay; Nail patella syndrome

Mesh：

Substances：

Year:  2017        PMID： 29290531     DOI： 10.1016/j.jdermsci.2017.12.010

Source DB:  PubMed          Journal:  J Dermatol Sci        ISSN： 0923-1811            Impact factor:   4.563


  2 in total

1.  Biallelic in-frame deletion in TRAPPC4 in a family with developmental delay and cerebellar atrophy.

Authors:  Ahmed K Saad; Dana Marafi; Tadahiro Mitani; Angad Jolly; Haowei Du; Hasnaa M Elbendary; Shalini N Jhangiani; Zeynep C Akdemir; Richard A Gibbs; Jill V Hunter; Claudia M B C Carvalho; Davut Pehlivan; Jennifer E Posey; Maha S Zaki; James R Lupski
Journal:  Brain       Date:  2020-10-01       Impact factor: 13.501

2.  A novel small deletion of LMX1B in a large Chinese family with nail-patella syndrome.

Authors:  Xiaoyi Yan; Jie Lin; Yifan Wang; Junli Xuan; Ping Yu; Tingwei Guo; Fan Jin
Journal:  BMC Med Genet       Date:  2019-05-03       Impact factor: 2.103
  2 in total

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