Localization of a gene for familial patella aplasia-hypoplasia (PTLAH) to chromosome 17q21-22

American Journal of Human Genetics

Volumn 65, Issue 2, 1999, Pages 441-447

  Mangino, Massimo ^a   Sanchez, Otto ^b   Torrente, Isabella ^a   De Luca, Alessandro ^a   Capon, Francesca ^a   Novelli, Giuseppe ^a   Dallapiccola, Bruno ^a  

^a UNIVERSITY OF ROME TOR VERGATA   (Italy)

^b Universidad de Oriente Nucleo Bolivar   (Venezuela)

Author keywords

[No Author keywords available]

Indexed keywords

APLASIA; ARTICLE; BONE MALFORMATION; CHROMOSOME 17Q; CLINICAL ARTICLE; CLINICAL FEATURE; GENE SEQUENCE; GENETIC LINKAGE; HUMAN; HUMAN CELL; PATELLA; PRIORITY JOURNAL; SYNDROME DELINEATION; VENEZUELA;

EID: 0033362050     PISSN: 00029297     EISSN: None     Source Type: Journal    
DOI: 10.1086/302505     Document Type: Article

References (31)

1. Azouz EM, Kozlowski K (1997) Small patella syndrome: a bone dysplasia to recognize and differentiate from the nail-patella syndrome. Pediatr Radiol 27:432-435
2. Beals RK, Eckhardt AL. (1969) Hereditary onycho-osteodysplasia (nail-patella syndrome). J Bone Joint Surg Am 51: 505-515
3. Bernhang AM, Levine SA (1973) Familial absence of the patella. J Bone Joint Surg Am 55:1088-1090
4. Braun HS (1978) Familial aplasia or hypoplasia of the patella. Clin Genet 13:350-352
5. Cassidy SB, McGee BJ, van Eys J, Nance WE, Engel E (1975) Trisomy 8 syndrome. Pediatrics 56:826-831
6. Curtiss J, Heilig JS (1998) Delimiting development. Bioessays 20:58-69
7. Dib C, Faure S, Fizames C, Samson D, Drouot N, Vignal A, Millasseau P, et al (1996) A comprehensive genetic map of the human genome based on 5,264 microsatellites. Nature 380:152-154
8. Dreyer SD, Zhou G, Baldini A, Winterpacht A, Zabel B, Cole W, Johnson RL, et al (1998) Mutations in LMX1B cause abnormal skeletal patterning and renal dysplasia in nail patella syndrome. Nat Genet 19:47-50
9. Fineman RM, Ablow RC, Howard RO, Albright J, Breg WR (1975) Trisomy 8 mosaicism syndrome. Pediatrics 56: 762-767
10. Goeminne L, Dujardin I, (1970) Congenital coxa vara, patella aplasia and tarsal synostosis: a new inherited syndrome. Acta Genet Med Gemellol (Roma) 19:534-545
11. Gong Y, Krakow D, Marcelino J, Wilkin D, Chitayat D, Babul-Hirji R, Hudgins L, et al (1999) Heterozygous mutations in the gene encoding noggin affect human joint morphogenesis. Nat Genet 21:302-304
12. Gorlin RJ (1990) Syndromes with unusual facies: other syndromes. In: Gorlin RJ Cohen MM Levin LS (eds) Sindromes of the head and neck, 3rd ed. Oxford University Press, New York, pp 831-832
13. Gyapay G, Morissette J, Vignal A, Dib C, Fizames C, Millasseau P, Marc S, et al (1994) The 1993-94 Généthon human genetic linkage map. Nat Genet 7:246-339
14. Jordan T, Hanson I, Zaletayev D, Hodgson S, Prosser J, Seawright A, Hastie N, et al (1992) The human PAX6 gene is mutated in two patients with aniridia. Nat Genet 1:328-332
15. Krakow D, Reinker K, Powell B, Cantor R, Priore MA, Garber A, Lachman RS, et al (1998) Localization of a multiple synostoses-syndrome disease gene to chromosome 17q21-22. Am J Hum Genet 63:120-124
16. Kutz ER (1949) Congenital absence of the patellae. J Pediatr 34:760-762
17. Lathrop GM, Lalouel JM (1984) Easy calculations of lod scores and genetic risks on small computers. Am J Hum Genet 36:460-465
18. Lucaya J, Garcia-Conesa JA, Bosch-Banyeras JM, Pons-Peradejordi G (1981 ) The Coffin-Siris syndrome: a report of four cases and review of the literature. Pediatr Radiol 11:35-38
19. Maceratesi P, Sangiuolo F, Novelli G, Ninfali P, Magnani M, Reichardt JK, Dallapiccola B (1996) Three new mutations (P183T, V150L, 528insG) and eleven sequence polymorphisms in Italian patients with galactose-1-phosphate uridyltransferase (GALT) deficiency. Hum Mutat 8:369-372
20. McIntosh I, Clough MV, Schäffer AA, Puffenberger EG, Horton VK, Peters K, Abbott MH, et al (1997) Fine mapping of the nail-patella syndrome locus at 9q34. Am J Hum Genet 60:133-142
21. McIntosh I, Dreyer SD, Clough MV, Dunston JA, Eyaid W, Roig CM, Montgomery T, et al (1998) Mutation analysis of LMX1B gene in nail-patella syndrome patients. Am J Hum Genet 63:1651-1658
22. Mirkinson AE, Mirkinson NK (1975) A familial syndrome of aniridia and absence of the patella. Birth Defects Orig Artic Ser 11:129-131
23. Nakamura S, Stock DW, Wydner KL, Bollekens JA, Takeshita K, Nagai BM, Chiba S, et al (1996) Genomic analysis of a new mammalian distal-less gene: DIx7. Genomics 38: 314-324
24. O'Connell JR, Weeks DE (1995) The VITESSE algorithm for rapid exact multilocus linkage analysis via genotype sct-recoding and fuzzy inheritance. Nat Genet 11:402-408
25. Petajan JH, Momberger GL, Aase J, Wright DG (1969) Arthrogryposis syndrome (Kuskokwim disease) in the Eskimo. JAMA 209:1481-1486
26. Scott JE, Taor WS (1979) The "small patella" syndrome. J Bone Joint Surg Br 61:172-175
27. Silengo MC, Davi GF, Franceschini P (1979) Radiological features in trisomy 8. Pediatr Radiol 8:116-118
28. Sujansky E, Smith AC, Peakman DC, McConnell TS, Baca P, Robinson A (1981) Familial pericentric inversion of chromosome 8. Am J Med Genet 10:229-235
29. Valenzuela DM, Economides AN, Rojas E, Lamb TM, Nunez L, Jones P, Lp NY, et al (1995) Identification of mammalian noggin and its expression in the adult nervous system. J Neurosci 15:6077-6084
30. Weissenbach J, Gyapay G, Dib C, Vignal A, Morissette J, Millasseau P, Vaysseix G, et al (1992) A second-generation linkage map of the human genome. Nature 359:794-801
31. Wright DG (1970) The unusual skeletal findings of the Kuskokwim syndrome. Birth Defects Orig Artic Ser 6:16-24