Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders
The LMX1B gene encodes a transcription factor which among others regulates the transcription of the collagen 4 genes essential for the glomerular basement membrane. Mutation cause the autosomal dominat nail-patella syndrome.
The incidence of the disease caused by LMX1B mutations is about 1 in 50,000 live births. The probability of new mutations seems to increase with father's age.
Mutations of the LMX1B gene cause an autosomal dominant disorder called nail-patella syndrome, which involves skeletal abnormalities (dysplasia of the nails, patellar aplasia or hypoplasia, iliac horns, dysplasia of the elbows) and is often associated with hereditary glaucoma and progressive nephropathy.
The gene product of LMX1B is a LIM-homeodomain transcription factor, which plays a role in skeletal and kidney development. It regulates normal patterning of the dorsoventral axis of the limbs. In the kidneys the gene is predominantly expressed by podocytes, where it regulates the translation of many crucial genes, such as COL4A4, COL4A3, CD2AP, NPHS2, and NPHS1.
| Clinic | Method | Carrier testing |
| Turnaround | 5 days | |
| Specimen type | genomic DNA |
| Clinic | Method | Massive parallel sequencing |
| Turnaround | 25 days | |
| Specimen type | genomic DNA |
| Clinic | Method | Genomic sequencing of the entire coding region |
| Turnaround | 5 days | |
| Specimen type | genomic DNA |
| Clinic | Method | Multiplex Ligation-Dependent Probe Amplification |
| Turnaround | 20 days | |
| Specimen type | genomic DNA |
| 1. |
Hamlington JD et al. (2000) Deletion of a branch-point consensus sequence in the LMX1B gene causes exon skipping in a family with nail patella syndrome. 
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| 2. |
Morello R et al. (2001) Regulation of glomerular basement membrane collagen expression by LMX1B contributes to renal disease in nail patella syndrome.
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| 3. |
Dunston JA et al. (2004) The human LMX1B gene: transcription unit, promoter, and pathogenic mutations.
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| 4. |
Marini M et al. (2005) Interaction of the LMX1B and PAX2 gene products suggests possible molecular basis of differential phenotypes in Nail-Patella syndrome.
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| 5. |
Bongers EM et al. (2005) Genotype-phenotype studies in nail-patella syndrome show that LMX1B mutation location is involved in the risk of developing nephropathy.
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| 6. |
Dreyer SD et al. (1998) Mutations in LMX1B cause abnormal skeletal patterning and renal dysplasia in nail patella syndrome.
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| 7. |
Vollrath D et al. (1998) Loss-of-function mutations in the LIM-homeodomain gene, LMX1B, in nail-patella syndrome.
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| 8. |
McIntosh I et al. (1998) Mutation analysis of LMX1B gene in nail-patella syndrome patients.
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| 9. |
Bongers EM et al. (2002) Nail-patella syndrome. Overview on clinical and molecular findings.
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| 10. |
Browning MC et al. (1988) Renal histopathology of the nail-patella syndrome in a two-year-old boy.
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| 11. |
Lichter PR et al. (1997) Cosegregation of open-angle glaucoma and the nail-patella syndrome.
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| 12. |
NCBI article NCBI 4010
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| 13. |
OMIM.ORG article Omim 602575
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| 14. |
Orphanet article Orphanet ID 123102
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| 15. |
Wikipedia article Wikipedia EN (LMX1B)
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