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

J. Dermatol. Sci.2018 Apr;90(1):90-93. Epub 2017 Dec 19

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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.

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

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