An expanding universe of FSGS genes and phenotypes: LMX1B mutations cause familial autosomal dominant FSGS lacking extrarenal manifestations

Journal of the American Society of Nephrology

Volumn 24, Issue 8, 2013, Pages 1183-1185

  Kopp, Jeffrey B ^a  

^a NATIONAL INSTITUTE OF DIABETES AND DIGESTIVE AND KIDNEY DISEASES   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

CD2 ASSOCIATED PROTEIN; COLLAGEN TYPE 4; IMMUNOGLOBULIN ENHANCER BINDING PROTEIN; INTERLEUKIN 6; INTERLEUKIN 8; LAMININ; LIM HOMEODOMAIN PROTEIN; NEPHRIN; PAIRED BOX TRANSCRIPTION FACTOR; PODOCIN; SEROTONIN; WNT PROTEIN;

AMINO TERMINAL SEQUENCE; AUTOSOMAL DOMINANT INHERITANCE; CELL SURVIVAL; DNA BINDING; EDITORIAL; FOCAL GLOMERULOSCLEROSIS; FSGS GENE; GENE; GENE EXPRESSION; GENETIC SCREENING; GENETIC VARIABILITY; GLOMERULUS BASEMENT MEMBRANE; HAPLOINSUFFICIENCY; HUMAN; KIDNEY BIOPSY; LINKAGE ANALYSIS; LMX1B GENE; NAIL PATELLA SYNDROME; NONHUMAN; PHENOTYPE; PLEIOTROPY; PODOCYTE; PRIORITY JOURNAL; PROTEIN DOMAIN; PROTEIN PROTEIN INTERACTION; PROTEINURIA; SIGNAL TRANSDUCTION;

EID: 84881109290     PISSN: 10466673     EISSN: 15333450     Source Type: Journal    
DOI: 10.1681/ASN.2013060661     Document Type: Editorial

References (12)

1. Boyer O, Woerner S, Oakeley EJ, Linghu B, GribouvalO, Tête MJ, Duca JS, Klickstein L, Damask AJ, Szustakowski JD, Heibel F, Matignon M, Baudouin V, Chantrel F, Champigneulle J, Martin L, Nitschké P, Gubler MC, Johnson KJ, Chibout SD, Antignac C: LMX1B mutations cause hereditary FSGS without extrarenal involvement. J AmSoc Nephrol 24: 1216-1222, 2013
2. Clough MV, Hamlington JD, McIntosh I: Restricted distribution of lossof- functionmutations within the LMX1B genes of nail-patella syndrome patients. Hum Mutat 14: 459-465, 1999
3. Dai JX, Johnson RL, Ding YQ: Manifold functions of the Nail-Patella Syndrome gene Lmx1b in vertebrate development. Dev Growth Differ 51: 241-250, 2009
4. DingYQ, Yin J, Kania A, Zhao ZQ, Johnson RL, Chen ZF: Lmx1b controls the differentiation and migration of the superficial dorsal horn neurons of the spinal cord. Development 131: 3693-3703, 2004
5. Harendza S, Stahl RA, Schneider A: The transcriptional regulation of podocin (NPHS2) by Lmx1b and a promoter single nucleotide polymorphism. Cell Mol Biol Lett 14: 679-691, 2009
6. McIntosh I, Dunston JA, Liu L, Hoover-Fong JE, Sweeney E: Nail patella syndrome revisited: 50 years after linkage. Ann Hum Genet 69: 349- 363, 2005
7. Bongers EM, Huysmans FT, Levtchenko E, de Rooy JW, Blickman JG, Admiraal RJ, Huygen PL, Cruysberg JR, Toolens PA, Prins JB, Krabbe PF, BormGF, Schoots J, van BokhovenH, van RemorteleAM, Hoefsloot LH, van Kampen A, Knoers NV: Genotype-phenotype studies in nailpatella syndrome show that LMX1B mutation location is involved in the risk of developing nephropathy. Eur J Hum Genet 13: 935-946, 2005
8. Lee BH, Cho TJ, Choi HJ, Kang HK, Lim IS, Park YH, Ha IS, Choi Y, Cheong HI: Clinico-genetic study of nail-patella syndrome. J Korean Med Sci 24[Suppl]: S82-S86, 2009
9. Bongers EM, de Wijs IJ, Marcelis C, Hoefsloot LH, Knoers NV: Identification of entire LMX1B gene deletions in nail patella syndrome: Evidence for haploinsufficiency as the main pathogenic mechanism underlying dominant inheritance in man. Eur J Hum Genet 16: 1240-1244, 2008
10. MariniM, Bocciardi R, Gimelli S, DiDucaM, DiviziaMT, Baban A, Gaspar H, Mammi I, Garavelli L, Cerone R, EmmaF, BedeschiMF, Tenconi R, Sensi A, Salmaggi A, Bengala M, Mari F, Colussi G, Szczaluba K, Antonarakis SE, Seri M, Lerone M, Ravazzolo R: A spectrum of LMX1B mutations in Nail- Patella syndrome: New point mutations, deletion, and evidence of mosaicism in unaffected parents. Genet Med 12: 431-439, 2010
11. Sweeney E, Fryer A, Mountford R, Green A, McIntosh I: Nail patella syndrome: A review of the phenotype aided by developmental biology. J Med Genet 40: 153-162, 2003
12. Dombros N, Katz A: Nail patella-like renal lesions in the absence of skeletal abnormalities. Am J Kidney Dis 1: 237-240, 1982