Clinical and molecular analysis of Grebe acromesomelic dysplasia in an Omani family

American Journal of Medical Genetics

Volumn 121 A, Issue 1, 2003, Pages 9-14

  Al Yahyaee, Said Ali S ^a   Al Kindi, Mohammed Nasser ^a   Habbal, Omar ^a   Kumar, Dilip Sankhla ^b  

^a SULTAN QABOOS UNIVERSITY   (Oman)

^b SULTAN QABOOS UNIVERSITY HOSPITAL   (Oman)

Author keywords

Acromesomelic dysplasia; Cartilage derived morphogenetic protein 1 (CDMP 1); Genetic variant; Grebe syndrome; Oman

Indexed keywords

BONE MORPHOGENETIC PROTEIN; CARTILAGE-DERIVED MORPHOGENETIC PROTEIN-1; GROWTH DIFFERENTIATION FACTOR 5; MORPHOGEN; PROTEIN; UNCLASSIFIED DRUG;

ADOLESCENT; AGAR GEL ELECTROPHORESIS; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; BONE DYSPLASIA; CARBOXY TERMINAL SEQUENCE; CASE REPORT; CHILD; CONSANGUINITY; DISEASE SEVERITY; DNA SEQUENCE; DYSPLASIA; FEMALE; FRAMESHIFT MUTATION; GENE MUTATION; GENETIC ANALYSIS; GENETIC VARIABILITY; GENETICS; GREBE ACROMESOMELIC DYSPLASIA; HALLUX VALGUS; HUMAN; LIMB MALFORMATION; MALE; MOLECULAR GENETICS; MULTIGENE FAMILY; MULTIPLE MALFORMATION SYNDROME; NUCLEOTIDE SEQUENCE; OMAN; PATHOLOGY; PRIORITY JOURNAL; PROTEIN DOMAIN; RECESSIVE GENE; SUBLUXATION;

VALGUS;

EID: 0042824202     PISSN: 15524825     EISSN: None     Source Type: Journal    
DOI: 10.1002/ajmg.a.20256     Document Type: Article

References (21)

1. Chang SC, Hoang B, Thomas JT, Vukicevic S, Luyten FP, Ryba NJP, Kozak CA, Reddi AH, Moos M. 1994. Cartilage-derived morphogenetic proteins: New members of the transforming growth factor-beta superfamily predominantly expressed in long bones during human embryonic development. J Biol Chem 269:28227-28234.
2. Costa T, Rams by G, Cassia F, Peters KR, Soars J, Correa J, Quelled-Salgado A, Stupors P. 1998. Grebe syndrome: Clinical and radiographic findings in affected individuals and heterozygous carriers. Am J Med Genet 75:523-529.
3. Curtis D. 1986. Heterozygote expression in Grebe chondrodysplasia. (Letter) Clin Genet 29:455-456.
4. Garcia-Castro JM, Perez-Comas A. 1975. Nonlethal achondrogenesis (Grebe-Quelce-Salgado type) in two Puerto Rico sibships. J Pediatr 87:948-952.
5. Grebe H. 1952. Die Achondrogenesis: Ein einfach rezessives Erbmerkmal. Folia Hered Path 2:23-28.
6. Griffith DL, Keck PC, Sampath TK, Rueger DC, Carlson WD. 1996. Three-dimensional structure of recombinant human osteogenic protein 1: Structural paradigm for the transforming growth factor beta superfamily. Proc Natl Acad Sci USA 93:878-883.
7. Hogan BL. 1996. Bone morphogenetic proteins: Multifunctional regulators of vertebrate development. Genes Dev 10:1580-1594.
8. Karsenty DP. 2000. The family of bone morphogenetic proteins. Kidney Int 57:2207-2214.
9. Kumar D, Curtis D, Blank CE. 1984. Grebe chondrodysplasia and brachydactyly in a family. Clin Genet 25:68-72.
10. Langer LO, 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.
11. Lin K, Thomas JT, McBride OW, Luyten FP. 1996. Assignment of a new TGF-beta superfamily member, human cartilage-derived morphogenetic protein-1, to chromosome 20q11.2. Genomics 34:150-151.
12. Luyten FP. 1997. Cartilage-derived morphogenetic protein-1. Int J Biochem Cell Biol 29:1241-1244.
13. Meera Khan PM, Khan A. 1982. Grebe chondrodysplasia in three generations of an Andhra family in India. Prog Clin Biol Res 104:69-80.
14. Polinkovsky A, Robin NH, Thomas JT, Irons M, Lynn A, Goodman FR, Reardon W, Kant SG, Brunner HG, van der Burgt I, Chitayat D, McGaughran, J, Donnai D, Luyten FP, Warman ML. 1997. Mutations in CDMP1 cause autosomal dominant brachydactyly type C. (Letter) Nat Genet 17:18-19.
15. Quelce-Salgado A. 1964. A new type of dwarfism with various bone aplasias and hypoplasias of the extremities. Acta Genet Statist Med 14:63-66.
16. Quelce-Salgado A. 1968. A rare genetic syndrome. Lancent i:1430.
17. Scheufler C, Sebald W, Hulsmeyer M. 1999. Crystal structure of human bone morphogenetic protein-2 at 2.7 A resolution. J Mol Biol 287:103-115.
18. Storm EE, Huynh TV, Copeland NG, Jenkins NA, Kingsley DM, Lee SJ. 1994. Limb alterations in brachypodism mice due to mutations in a new member of the TGF-beta superfamily. Nature 368:639-643.
19. Thomas JT, Lin K, Nandedkar M, Camargo M, Cervenka J, Luyten FP. 1996. A human chondrodysplasia due to a mutation in a TGF-beta superfamily member. Nat Genet 12:315-317.
20. Thomas JT, Kilpatrick MW, Lin K, Erlacher L, Lembessis P, Costa T, Tsipouras P, Luyten FP. 1997. Disruption of human limb morphogenesis by a dominant negative mutation in CDMP1. Nat Genet 17:58-64.
21. Tsumaki N, Tanaka K, Arikawa-Hirasawa E, Nakase T, Kimura T, Thomas JT, Ochi T, Luyten FP, Yamada Y. 1999. Role of CDMP-1 in skeletal morphogenesis: Promotion of mesenchymal cell recruitment and chondrocyte differentiation. J Cell Biol 144:161-173.