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

作者：Mukai Miho; Fujita Harumi; Umegaki Arao Noriko; Sasaki Takashi; Yasuda Sekiguchi Fumiyo; Isojima Tsuyoshi; Kitanaka Sachiko; Amagai Masayuki; Kubo Akiharu^*

来源：Journal of Dermatological Science, 2018, 90(1): 90-93.

DOI：10.1016/j.jdermsci.2017.12.010

• Nail patella syndrome
• LMX1B
• Luciferase reporter assay

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.

• 出版日期2018-4