This is the first report of familial nail-patella syndrome associated with an LMX1B in Korea mutation, However, we can not completely rule out the possibility that the G-to-C change may be a single nucleotide polymorphism as this genetic mutation cause no alteration in amino acid sequence of LMX1B.
LMX1B mutations in humans cause an autosomal dominant inherited disease called nail-patella syndrome (NPS), which is characterized by abnormalities of the arms and legs as well as kidney disease and glaucoma.
The identification of entire LMX1B deletions strongly confirms that haploinsufficiency is the principal pathogenetic mechanism of NPS and suggests a difference in dosage sensitivity for this gene between mice and man.
This is the first report that a mutation in the LMX1B gene causes NPS in a Chinese population, which will expand the spectrum of mutations in the LMX1B gene and provide insight into the underlining pathology of NPS.
The identification of entire LMX1B deletions strongly confirms that haploinsufficiency is the principal pathogenetic mechanism of NPS and suggests a difference in dosage sensitivity for this gene between mice and man.
This is the first report that a mutation in the LMX1B gene causes NPS in a Chinese population, which will expand the spectrum of mutations in the LMX1B gene and provide insight into the underlining pathology of NPS.
This suggests that the locus 9q33-9q34 can be excluded for GPS and that the presented case is unique in its combination of GPS and NPS features caused by a microdeletion associated with loss of function of LMX1B and NR5A1.
Co-occurrence of familial Mediterranean fever (FMF) heterozygote mutation and nail-patella syndrome (NPS) in 3 members of a family with LMX1B mutation analysis.
In an attempt to further evaluate these mechanisms, we tried to induce a renal phenotype in Lmx1b (+/-) mice, and thus model the human (NPS) situation.
Nail-patella syndrome (NPS) is rare genetic disorder with autosomal mode of inheritance resulting from mutations in the LMX1B gene mapped on the long arm of chromosome 9 (9q34), encoding transcription factor, also named LMX1B.
In the present study, we analyzed the LMX1B gene in three Japanese patients with NPS and identified two novel mutations, 6 nucleotide deletion (Delta246N 247Q) and V242L.
NPS is inherited as an autosomal dominant trait and caused by heterozygous loss of function mutations in LMX1B, a member of the LIM homeodomain protein family.