TY - JOUR
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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U2 - 10.1016/j.jdermsci.2017.12.010
DO - 10.1016/j.jdermsci.2017.12.010
M3 - Letter
C2 - 29290531
AN - SCOPUS:85042948045
SN - 0923-1811
VL - 90
SP - 90
EP - 93
JO - Journal of Dermatological Science
JF - Journal of Dermatological Science
IS - 1
ER -