Restricted distribution of loss-of-function mutations within the LMX1B genes of nail-patella syndrome patients

Human Mutation

Volumn 14, Issue 6, 1999, Pages 459-465

  Clough, Mark V ^b   Hamlington, Jeanette D ^b   McIntosh, Iain ^a,b  

^a JOHNS HOPKINS UNIVERSITY SCHOOL OF MEDICINE   (United States)

^b JOHNS HOPKINS UNIVERSITY   (United States)

Author keywords

Haploinsufficiency; Limb development; LMX1B; Loss of function; Mutation; Nail patella syndrome

Indexed keywords

DNA; HOMEODOMAIN PROTEIN; MESSENGER RNA; TRANSCRIPTION FACTOR;

CARBOXY TERMINAL SEQUENCE; GENE; GENE FREQUENCY; GENE MUTATION; HUMAN; LIMB DEVELOPMENT; NAIL PATELLA SYNDROME; NONHUMAN; NORTHERN BLOTTING; NUCLEOTIDE SEQUENCE; PHENOTYPE; PRIORITY JOURNAL; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION; REVIEW;

FEMALE; GENES, DOMINANT; HOMEODOMAIN PROTEINS; HUMANS; MALE; MUTATION; NAIL-PATELLA SYNDROME; PEDIGREE; PHENOTYPE; POINT MUTATION; POLYMORPHISM, GENETIC; SEQUENCE DELETION; TRANSCRIPTION FACTORS;

EID: 0032763066     PISSN: 10597794     EISSN: None     Source Type: Journal    
DOI: 10.1002/(SICI)1098-1004(199912)14:6<459::AID-HUMU3>3.0.CO;2-9     Document Type: Review

References (26)

1. Beals RK, Eckhardt AL. 1969. Hereditary onycho-osteodysplasia (Nail-patella syndrome). J Bone Joint Surg 51A:505-515.
2. Browning MC, Weidner N, Lorentz WB Jr. 1988. Renal histopathology of the nail-patella syndrome in a two-year-old boy. Clin Nephrol 29:210-213.
3. Campeau E, Watkins D, Rouleau GA, Babul R, Buchanan JA, Meschino W, Der Kaloustian VM. 1995. Linkage analysis of the nail-patella syndrome. Am J Hum Genet 56:243-247.
4. Chen H, Lun Y, Ovchimnikov D, Oberg KC, Pepicelli CV, Gan L, Lee B, Johnson RL. 1998a. Limb and kidney defects in Lmx1b mice suggest an involvement of LMX1B in human nail-patella syndrome. Nat Genet 19:51-55.
5. Chen H, Ovchinnikov D, Pressman CL, Aulehla A, Lun Y, Johnson RL. 1998b. Multiple calvarial defects in lmx1b mutant mice. Dev Genet 22:314-320.
6. Curtiss J, Heilig JS. 1998. DeLIMiting development. BioEssays 20:58-69.
7. Dawid IB, Toyama R, Taira M. 1995. LIM domain proteins. CR Acad Sci III 318:295-306.
8. Dreyer SD, Zhou G, Baldini A, Winterpacht A, Zabel B, Cole W, Johnson RL, Lee B. 1998. Mutations in LMX1B cause abnormal skeletal patterning and renal dysplasia in nail patella syndrome. Nat Genet 19:47-50.
9. Duba H-C, Edel M, Löffler J, Wirth J, Utermann B, Uterman G. 1998. Nail patella syndrome in a cytogenetically balanced t(9;17)(q34.1;q24) carrier. Eur J Hum Genet 6:75-79.
10. Eyaid WM, Clough MV, Root H, Scott KM, McCormick MK, Zhang X, Lisitsyn NA, Kearns WG, Francomano CA, Richards JE, McIntosh I. 1998. Physical mapping of the nail patella syndrome interval at 9q34: ordering of STSs and ESTs. Hum Genet 103:525-526.
11. Farley FA, Lichter PR, Downs CA, McIntosh I, Vollrath D, Richards JE. 1999. An orthopaedic scoring system for Nail-patella syndrome and application to a kindred with variable expressivity and glaucoma. J Pediatr Orthop 19:624-631.
12. Hobert O, Tessmar K, Ruvkun G. 1999. The Caenorhabditis elegans lim-6 LIM homeobox gene regulates neurite outgrowth and function of particular GABAergic neurons. Development 126:1547-1562.
13. Iannotti CA, Inoue H, Bernal E, Aoki M, Liu L, Donis-Keller H, German MS, Permutt MA. 1997. Identification of a human LMX1 (LMX1.1)-related gene, LMX1.2: tissue-specific expression and linkage mapping on chromosome 9. Genomics 46:520-524.
14. Johnson JD, Zhang W, Rudnick A, Rutter WJ, German MS. 1997. Transcriprional synergy between LIM-homeodomain proteins and basic helix-loop-helix proteins: the LIM2 domain determines specificity. Mol Cell Biol 17:3488-3496.
15. Lichter PR, Richards JE, Downs CA, Stringham HM, Boehnke M, Farley FA. 1997. Cosegregation of open-angle glaucoma and the nail-patella syndrome. Am J Ophthalmol 124:506-515.
16. Little EM. 1897. Congenital absence or delayed development of the patella. Lancet II:781-784.
17. McIntosh I, Clough MV, Schäffer AA, Puffenberger EG, Horton VK, Peters K, Abbott MH, Roig CM, Cutone S, Ozelius L, Kwiatkowski DJ, Pyeritz RE, Brown LJ, Pauli RM, McCormick MK, Francomano CA. 1997. Fine mapping of the nail patella syndrome locus at 9q34. Am J Hum Genet 60:133-142.
18. McIntosh I, Dreyer SD, Clough MV, Dunston JA, Eyaid WM, Roig CM, Montgomery T, AlaMello S, Kaitila I, Winterpacht A, Zabel B, Frydman M, Cole WG, Francomano CA, Lee B. 1998. Mutation analysis of LMX1B gene in nail-patella syndrome patients. Am J Hum Genet 63:1651-1658.
19. McIntosh I, Clough MV, Gak E, Frydman M. 1999. Prenatal diagnosis of nail patella syndrome. Prenatal Diag 19:237-288.
20. Pressman CL, Martin JF, Johnson RL. 1999. The role of Lmx1b and Pitx2 in ocular morphogenesis. Dev Biol (Abstr) 210:210.
21. Renwick JH. 1956. Nail-patella syndrome: evidence for modification by alleles at the main locus. Ann Hum Genet 21: 159-169.
22. Renwick JH, Lawler SD. 1955. Genetical linkage between the ABO and nail-patella loci. Ann Hum Genet 19:312-331.
23. Riddle RD, Ensini M, Nelson C, Tsuchida T, Jessell TM, Tabin C. 1995. Induction of the LIM homeobox gene Lmx1 by WNT7a establishes dorsoventral pattern in the vertebrate limb. Cell 83:631-640.
24. Schleuterman DA, Bias WA, Murdoch JL, McKusick VA. 1969. Linkage of the loci for the nail-patella syndrome and adeny-late kinase. Am J Hum Genet 21:606-613.
25. Seri M, Melchionda S, Dreyer S, Marini M, Carella M, Cusano R, Piemontese MR, Caroli F, Silengo M, Zelante L, Romeo G, Ravazzolo R, Gasparini P, Lee B. 1999. Identification of LMX1B gene point mutations in Italian patients affected with Nail-Patella syndrome. Int J Mol Med 4:285-290.
26. Vollrath D, Jaramillo-Babb VL, Clough MV, McIntosh I, Scott KM, Lichter PR, Richards JE. 1998. Loss of function mutations in the LIM homeodomain gene, LMX1B, in nail-patella syndrome. Hum Mol Genet 7:1091-1098.