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American Journal of Human Genetics logoLink to American Journal of Human Genetics
. 1998 Jul;63(1):155–162. doi: 10.1086/301917

Acromesomelic dysplasia Maroteaux type maps to human chromosome 9.

S G Kant 1, A Polinkovsky 1, S Mundlos 1, B Zabel 1, R T Thomeer 1, H M Zonderland 1, L Shih 1, A van Haeringen 1, M L Warman 1
PMCID: PMC1377238  PMID: 9634515

Abstract

Acromesomelic dysplasias are skeletal disorders that disproportionately affect the middle and distal segments of the appendicular skeleton. We report genetic mapping studies in four families with acromesomelic dysplasia Maroteaux type (AMDM), an autosomal recessive osteochondrodysplasia. A peak LOD score of 5.1 at recombination fraction 0 was obtained with fully informative markers on human chromosome 9. In three of the four families, the affected offspring are products of consanguineous marriages; if it is assumed that these affected offspring are homozygous by descent for the region containing the AMDM locus, a 6.9-cM AMDM candidate interval can be defined by markers D9S1853 and D9S1874. The mapping of the AMDM locus to human chromosome 9 indicates that AMDM is genetically distinct from the two other mapped acromesomelic dysplasias, Hunter-Thompson type and Grebe type, which are caused by mutations in CDMP1 on human chromosome 20.

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Selected References

These references are in PubMed. This may not be the complete list of references from this article.

  1. Beighton P. Autosomal recessive inheritance in the mesomelic dwarfism of Campailla and Martinelli. Clin Genet. 1974;5(4):363–367. doi: 10.1111/j.1399-0004.1974.tb01707.x. [DOI] [PubMed] [Google Scholar]
  2. Borrelli P., Fasanelli S., Marini R. Acromesomelic dwarfism in a child with an interesting family history. Pediatr Radiol. 1983;13(3):165–168. doi: 10.1007/BF01624409. [DOI] [PubMed] [Google Scholar]
  3. Brahimi L., Bacha L., Kozlowski K., Massen R., Zenati M. Acro-mesomelic dysplasia--a new type. Report of two siblings. Pediatr Radiol. 1988;18(1):67–69. doi: 10.1007/BF02395764. [DOI] [PubMed] [Google Scholar]
  4. Cantú J. M., Manzano C., Pagán P., García-Cruz D., Hernández A. A distinct skeletal dysplasia in an infant from consanguineous parents. Birth Defects Orig Artic Ser. 1977;13(3B):139–147. [PubMed] [Google Scholar]
  5. Dib C., Fauré S., Fizames C., Samson D., Drouot N., Vignal A., Millasseau P., Marc S., Hazan J., Seboun E. A comprehensive genetic map of the human genome based on 5,264 microsatellites. Nature. 1996 Mar 14;380(6570):152–154. doi: 10.1038/380152a0. [DOI] [PubMed] [Google Scholar]
  6. Fernández del Moral R., Santolaya Jiménez J. M., Rodríguez González J. I., Franco Vicario R. Report of a case: acromesomelic dysplasia: radiologic, clinical, and pathological study. Am J Med Genet. 1989 Jul;33(3):415–419. doi: 10.1002/ajmg.1320330326. [DOI] [PubMed] [Google Scholar]
  7. Ferraz F. G., Maroteaux P., Sousa J. P., Alves T., Dias I., Ferraz E., Marques M., Santos L. Acromesomelic dwarfism: a new variation. J Pediatr Orthop B. 1997 Jan;6(1):27–32. doi: 10.1097/01202412-199701000-00007. [DOI] [PubMed] [Google Scholar]
  8. Hall C. M., Stoker D. J., Robinson D. C., Wilkinson D. J. Acromesomelic dwarfism. Br J Radiol. 1980 Oct;53(634):999–1003. doi: 10.1259/0007-1285-53-634-999. [DOI] [PubMed] [Google Scholar]
  9. Hunter A. G., Thompson M. W. Acromesomelic dwarfism: description of a patient and comparison with previously reported cases. Hum Genet. 1976 Sep 10;34(1):107–113. doi: 10.1007/BF00284447. [DOI] [PubMed] [Google Scholar]
  10. Lander E. S., Botstein D. Homozygosity mapping: a way to map human recessive traits with the DNA of inbred children. Science. 1987 Jun 19;236(4808):1567–1570. doi: 10.1126/science.2884728. [DOI] [PubMed] [Google Scholar]
  11. Langer L. O., Garrett R. T. Acromesomelic dysplasia. Radiology. 1980 Nov;137(2):349–355. doi: 10.1148/radiology.137.2.7433666. [DOI] [PubMed] [Google Scholar]
  12. Langer L. O., Jr, Beals R. K., Solomon I. L., Bard P. A., Bard L. A., Rissman E. M., Rogers J. G., Dorst J. P., Hall J. G., Sparkes R. S. Acromesomelic dwarfism: manifestations in childhood. Am J Med Genet. 1977;1(1):87–100. doi: 10.1002/ajmg.1320010110. [DOI] [PubMed] [Google Scholar]
  13. Langer L. O., Jr, Cervenka J., Camargo M. A severe autosomal recessive acromesomelic dysplasia, the Hunter-Thompson type, and comparison with the Grebe type. Hum Genet. 1989 Mar;81(4):323–328. doi: 10.1007/BF00283684. [DOI] [PubMed] [Google Scholar]
  14. Lathrop G. M., Lalouel J. M., Julier C., Ott J. Strategies for multilocus linkage analysis in humans. Proc Natl Acad Sci U S A. 1984 Jun;81(11):3443–3446. doi: 10.1073/pnas.81.11.3443. [DOI] [PMC free article] [PubMed] [Google Scholar]
  15. Maroteaux P., Martinelli B., Campailla E. Le nanisme acromésomélique. Presse Med. 1971 Oct 9;79(42):1839–1842. [PubMed] [Google Scholar]
  16. Minty I. L., Hall C. M. Case report: hypomagnesaemia in a patient with acromesomelic dysplasia. Br J Radiol. 1993 Nov;66(791):1061–1064. doi: 10.1259/0007-1285-66-791-1061. [DOI] [PubMed] [Google Scholar]
  17. Mundlos S., Olsen B. R. Heritable diseases of the skeleton. Part I: Molecular insights into skeletal development-transcription factors and signaling pathways. FASEB J. 1997 Feb;11(2):125–132. doi: 10.1096/fasebj.11.2.9039954. [DOI] [PubMed] [Google Scholar]
  18. Neuhaus H., Bettenhausen B., Bilinski P., Simon-Chazottes D., Guénet J. L., Gossler A. Etl2, a novel putative type-I cytokine receptor expressed during mouse embryogenesis at high levels in skin and cells with skeletogenic potential. Dev Biol. 1994 Dec;166(2):531–542. doi: 10.1006/dbio.1994.1335. [DOI] [PubMed] [Google Scholar]
  19. Osebold W. R., Remondini D. J., Lester E. L., Spranger J. W., Opitz J. M. 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. 1985 Dec;22(4):791–809. doi: 10.1002/ajmg.1320220414. [DOI] [PubMed] [Google Scholar]
  20. Pfeiffer R. A., Hirschfelder H., Rott H. D. Specific acromesomelia with facial and renal anomalies: a new syndrome. Clin Dysmorphol. 1995 Jan;4(1):38–43. [PubMed] [Google Scholar]
  21. Pilz A., Woodward K., Povey S., Abbott C. Comparative mapping of 50 human chromosome 9 loci in the laboratory mouse. Genomics. 1995 Jan 1;25(1):139–149. doi: 10.1016/0888-7543(95)80119-7. [DOI] [PubMed] [Google Scholar]
  22. Povey S., Attwood J., Chadwick B., Frezal J., Haines J. L., Knowles M., Kwiatkowski D. J., Olopade O. I., Slaugenhaupt S., Spurr N. K. Report on the Fifth International Workshop on Chromosome 9 held at Eynsham, Oxfordshire, UK, September 4-6, 1996. Ann Hum Genet. 1997 May;61(Pt 3):183–206. doi: 10.1046/j.1469-1809.1997.6130183.x. [DOI] [PubMed] [Google Scholar]
  23. Sener R. N., Ustun E. E., Ozkinay C., Memis A., Oyar O. Acromesomelic-spondyloepiphyseal dysplasia associated with congenital optic atrophy: report of a family. Pediatr Radiol. 1993;23(4):321–324. doi: 10.1007/BF02010928. [DOI] [PubMed] [Google Scholar]
  24. Spranger J. Pattern recognition in bone dysplasias. Prog Clin Biol Res. 1985;200:315–342. [PubMed] [Google Scholar]
  25. Sulisalo T., Klockars J., Mäkitie O., Francomano C. A., de la Chapelle A., Kaitila I., Sistonen P. High-resolution linkage-disequilibrium mapping of the cartilage-hair hypoplasia gene. Am J Hum Genet. 1994 Nov;55(5):937–945. [PMC free article] [PubMed] [Google Scholar]
  26. Thomas J. T., Kilpatrick M. W., Lin K., Erlacher L., Lembessis P., Costa T., Tsipouras P., Luyten F. P. Disruption of human limb morphogenesis by a dominant negative mutation in CDMP1. Nat Genet. 1997 Sep;17(1):58–64. doi: 10.1038/ng0997-58. [DOI] [PubMed] [Google Scholar]
  27. Thomas J. T., Lin K., Nandedkar M., Camargo M., Cervenka J., Luyten F. P. A human chondrodysplasia due to a mutation in a TGF-beta superfamily member. Nat Genet. 1996 Mar;12(3):315–317. doi: 10.1038/ng0396-315. [DOI] [PubMed] [Google Scholar]
  28. Walder R. Y., Shalev H., Brennan T. M., Carmi R., Elbedour K., Scott D. A., Hanauer A., Mark A. L., Patil S., Stone E. M. Familial hypomagnesemia maps to chromosome 9q, not to the X chromosome: genetic linkage mapping and analysis of a balanced translocation breakpoint. Hum Mol Genet. 1997 Sep;6(9):1491–1497. doi: 10.1093/hmg/6.9.1491. [DOI] [PubMed] [Google Scholar]

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