Acromesomelic dysplasia maroteaux type maps to human chromosome 9

American Journal of Human Genetics

Volumn 63, Issue 1, 1998, Pages 155-162

  Kant, Sarina G ^a   Polinkovsky, Alexander ^b   Mundlos, Stefan ^d   Zabel, Bernhard ^d   Thomeer, Ralph T W M ^a   Zonderland, Harmien M ^a   Shih, Ling Yu ^e   Van Haeringen, Arie ^a   Warman, Matthew L ^b,c  

^a LEIDEN UNIVERSITY MEDICAL CENTER   (Netherlands)

^b CASE WESTERN RESERVE UNIVERSITY SCHOOL OF MEDICINE   (United States)

^c UNIVERSITY HOSPITALS OF CLEVELAND   (United States)

^d JOHANNES GUTENBERG UNIVERSITY   (Germany)

^e UNIVERSITY OF MEDICINE AND DENTISTRY OF NEW JERSEY   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ADOLESCENT; ADULT; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; CHILD; CHONDRODYSPLASIA; CHROMOSOMAL LOCALIZATION; CHROMOSOME 9; CONSANGUINITY; FAMILY STUDY; FEMALE; GENE MAPPING; HUMAN; MAJOR CLINICAL STUDY; MALE; PRIORITY JOURNAL;

EID: 0032231477     PISSN: 00029297     EISSN: None     Source Type: Journal    
DOI: 10.1086/301917     Document Type: Article

References (32)

1. Online Mendelian Inheritance in Man (OMIM), http:// www.ncbi.nlm.nih.gov/Omim (for AMDM [MIM 201250])
2. Beighton P (1974) Autosomal recessive inheritance in the mesomelic dwarfism of Campailla and Martinelli. Clin Genet 5:363-367
3. Borrelli P, Fasanelli S, Marini R (1983) Acromesomelic dwarfism in a child with an interesting family history. Pediatr Radiol 13:165-168
4. Brahimi L, Bacha L, Kozlowski K, Massen R, Zenati M (1988) Acro-mesomelic dysplasia - a new type. Pediatr Radiol 18: 67-69
5. Cantú JM, Manzan C, Pagán P, García-Cruz D, Hernández A (1977) A distinct skeletal dysplasia in an infant from consanguineous parents. Birth Defects Original Article Series 13:139-147
6. Fernandez del Moral R, Santolaya Jimenez JM, Rodriguez Gonzalez JI, Franco Vicario R (1989) Report of a case: acromesomelic dysplasia: radiologic, clinical and pathological study. Am J Med Genet 33:415-419
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. Ferraz FG, Maroteaux P, Sousa JP, Alves T, Dias I, Ferraz E, Marques M, et al (1997) Acromesomelic dwarfism: a new variation. J Pediatr Orthop B 6:27-32
9. Grebe H (1952) Die Achondrogenesis: Ein einfach rezessives Erbmerkmal. Folia Hered Pathol 2:23-28
10. Hall CM, Stoker DJ, Robinson DC, Wilkinson DJ (1980) Acromesomelic dwarfism. Br J Radiol 53:999-1003
11. Hunter AGW, Thompson MW (1976) Acromesomelic dwarfism: description of a patient and comparison with previously reported cases. Hum Genet 34:107-113
12. Lander ES, Botstein D (1987) Homozygosity mapping: a way to map human recessive traits with the DNA of inbred children. Science 236:1567-1570
13. Langer LO, Beals RK, Solomon IL, Bard PA, Bard LA, Rissman EM, Rogers JG, et al (1977) Acromesomelic dwarfism: manifestations in childhood. Am J Med Genet 1:87-100
14. Langer LO Jr, Cervenka J, Camargo M (1989) A severe autosomal recessive acromesomelic dysplasia, the Hunter-Thompson type, and comparison with the Grebe type. Hum Genet 81:323-328
15. Langer LO, Garrett RT (1980) Acromesomelic dysplasia. Radiology 137:349-355
16. Lathrop GM, Lalouel JM, Julier C, Ott J (1984) Strategies for multilocus linkage analysis in humans. Proc Natl Acad Sci USA 81:3433-3446
17. Maroteaux P, Martinelli B, Campailla E (1971) Le nanisme acromésomélique. Presse Med 79:1839-1842
18. Minty IL, Hall CM (1993) Case report: hypomagnesaemia in a patient with acromesomelic dysplasia. Br J Radiol 66: 1061-1064
19. Mundlos S, Olsen BR (1997a) Heritable diseases of the skeleton part I: molecular insights into skeletal development - transcription factors and signalling pathways. FASEB J 11:125-132
20. _ (1997b) Heritable diseases of the skeleton, part II: molecular insights into skeletal development - matrix components and their homeostasis. FASEB J 11:227-233
21. Neuhaus H, Bettenhausen B, Bilinski P, Simon-Chazottes B, Guénet JL, Gossler A (1994) Etl2, a novel putative type-1 cytokine receptor expressed during mouse embryogenesis at high levels in skin and cells with skeletogenic potential. Dev Biol 166:531-542
22. Osebold WR, Remondini DJ, Lester EL, Spranger JW, Opitz JM (1985) An autosomal dominant syndrome of short stature with mesomelic shortness of limbs, abnormal carpal and tarsal bones, hypoplastic middle phalanges, and bipartite calcanei. Am J Med Genet 22:791-809
23. Pfeif fer RA, Hirschfelder H, Rott H-D (1995) Specific acromesomelia with facial and renal anomalies: a new syndrome. Clin Dysmorph 4:38-43
24. Pilz A, Woodward K, Povey S, Abbott C (1995) Comparative mapping of 50 human chromosome 9 loci in the laboratory mouse. Genomics 25:139-149
25. Povey S, Attwood J, Chadwick B, Frezal J, Haines JL, Knowles M, Kwiatkowski DJ, et al (1997) Report on the Fifth International Workshop on Chromosome 9. Ann Hum Genet 61:183-206
26. Rimoin DL, Francomano CA, Giedion A, Hall C, Kaitila I, Cohn D, Gorlin R, et al. International nomenclature and classification of the osteochondrodysplasias (1997). Am J Med Genet, in press
27. Sener RN, Ustun EE, Ozkinay C, Memis A, Oyar O (1993) Acromesomelic-spondyloepiphyseal dysplasia associated with congenital optic atrophy: report of a family. Pediatr Radiol 23:321-324
28. Spranger J (1985) Pattern recognition in bone dysplasias. In: Bartsocas C (ed) Endocrine genetics and genetics of growth. Alan R Liss, New York, pp 315-342
29. Sulisalo T, Klockars J, Mäkitie O, Francomano CA, de la Chapelle A, Kaitila I, Sistonen P (1994) High-resolution linkage-disequilibrium mapping of the cartilage-hair hypoplasia gene. Am J Hum Genet 55:937-945
30. Thomas JT, Kilpatrick MW, Lin K, Erlacher L, Lembessis P, Costa T, Tsipouras P, et al (1997) Disruption of human limb morphogenesis by a dominant negative mutation in CDMP1. Nat Genet 17:58-64
31. Thomas JT, Lin K, Nandedkar M, Camargo M, Cervenka J, Luyten FP (1996) A human chondrodysplasia due to a mutation in a TGF-β superfamily member. Nat Genet 12: 315-317
32. Walder RY, Shalev H, Brennan TMH, Carmi R, Elbedour K, Scott DA, Hanauer A, et al (1997) Familial hypomagnesemia maps to chromosome 9q, not to the X chromosome: genetic linkage mapping and analysis of a balanced translocation breakpoint. Hum Mol Genet 6:1491-1497