Mutations in a novel gene Dymeclin (FLJ20071) are responsible fo Dyggve-Melchior-Clausen syndrome

Human Molecular Genetics

Volumn 12, Issue 3, 2003, Pages 357-364

  El Ghouzzi, Vincent ^a   Dagoneau, Nathalie ^a   Kinning, Esther ^b   Thauvin Robinet, Christel ^a   Chemaitilly, Wassim ^a   Prost Squarcioni, Catherine ^c   Al Gazali, Lihadh I ^d   Verloes, Alain ^e   Le Merrer, Martine ^a   Munnich, Arnold ^a   Trembath, Richard C ^b   Cormier Daire, Valérie ^a  

^a HÔPITAL NECKER ENFANTS MALADES   (France)

^b UNIVERSITY OF LEICESTER   (United Kingdom)

^c AVICENNE HOSPITAL   (France)

^d UNITED ARAB EMIRATES UNIVERSITY   (United Arab Emirates)

^e HÔPITAL ROBERT DEBRÉ   (France)

Author keywords

[No Author keywords available]

Indexed keywords

ARGININE; ASPARAGINE; CELL PROTEIN; DYMECLIN; GENE PRODUCT; GLUTAMINE; LEUCINE; UNCLASSIFIED DRUG;

ARTICLE; AUTOSOMAL RECESSIVE DISORDER; BRAIN; CARBOXY TERMINAL SEQUENCE; CARTILAGE CELL; CELL ASSAY; CELL VACUOLE; CLINICAL ARTICLE; CONTROLLED STUDY; DISEASE ASSOCIATION; DYGGVE MELCHOIR CLAUSEN SYNDROME; ELECTRON MICROSCOPY; FETUS; FRAMESHIFT MUTATION; GENE CLUSTER; GENE FUNCTION; GENE IDENTIFICATION; GENE LOCATION; GENE MUTATION; GENETIC CONSERVATION; GENETIC TRANSCRIPTION; HUMAN; HUMAN CELL; HUMAN TISSUE; MENTAL DEFICIENCY; MOLECULAR CLONING; NONSENSE MUTATION; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL; PROTEIN DEGRADATION; PROTEIN FAMILY; PROTEIN LOCALIZATION; PROTEIN MOTIF; RNA SPLICING; ROUGH ENDOPLASMIC RETICULUM; SEQUENCE HOMOLOGY; SPONDYLOEPIPHYSEAL DYSPLASIA;

ABNORMALITIES, MULTIPLE; AMINO ACID SEQUENCE; BASE SEQUENCE; DNA MUTATIONAL ANALYSIS; FEMALE; HUMANS; LINKAGE (GENETICS); MALE; MENTAL RETARDATION; MOLECULAR SEQUENCE DATA; MUTATION; PEDIGREE; PROTEINS; SEQUENCE ANALYSIS, DNA; SKIN;

EID: 0037322729     PISSN: 09646906     EISSN: None     Source Type: Journal    
DOI: 10.1093/hmg/ddg029     Document Type: Article

References (26)

1. Hall, C. (2002) International nosology and classification of Constitutional disorders of bone (2001). Am. J. Med. Genet., 113, 65-77.
2. Dreyer, S.D., Zhou, G. and Lee, B. (1998) The long and the short of it: developmental genetics of the skeletal dysplasias. Clin. Genet., 54, 464-473.
3. Tiller, G.E., Polumbo, P.A., Weis, M.A., Bogaert, R., Lachman, R.S., Cohn, D.H., Rimoin, D.L. and Eyre, D.R. (1995) Dominant mutations in the type II collagen gene, COL2A1, produce spondyloepimetaphyseal dysplasia, Strudwick type. Nat. Genet., 11, 87-89.
4. Hurvitz, J.R., Suwairi, W.M., Van Hul, W., El-Shanti, H., Superti-Furga, A., Roudier, J., Holderbaum, D., Pauli, R.M., Herd, J.K.., Van Hul, E.V. et al. (1999) Mutations in the CCN gene family member WISP3 cause progressive pseudorheumatoid dysplasia. Nat. Genet., 23, 94-98.
5. Delepine, M., Nicolino, M., Barrett, T., Golamaully, M., Lathrop, G.M. and Julier, C. (2000) EIF2AK3, encoding translation initiation factor 2-alpha kinase 3, is mutated in patients with Wolcott-Rallison syndrome. Nat. Genet., 25, 406-409.
6. Nicole, S., Davoine, C.S., Topaloglu, H., Cattolico, L., Barral, D., Beighton, P., Hamida, C.B., Hammouda, H., Cruaud, C., White, P.S. et al. (2000) Perlecan, the major proteoglycan of basement membranes, is altered in patients with Schwartz-Jampel syndrome (chondrodystrophic myotonia). Nat. Genet., 26, 480-483.
7. Xu, Z.H., Otterness, D.M., Freimuth, R.R., Carlini, E.J, Wood, T.C., Mitchell, S., Moon, E., Kim, U.J., Xu, J.P., Siciliano, M.J. and Weinshilboum, R.M. (2000) Human 3′ phosphoadenosine 5′-phosphosulfate synthetase 1 (PAPSS1) and PAPSS2: gene cloning, characterization and chromosomal localization. Biochem. Biophys. Res. Commun., 268, 437-444.
8. Boerkoel, C.F., Takashima, H., John, J., Yan, J., Stankiewicz, P., Rosenbarker, L., Andre, J.L., Bogdanovic, R., Burguet, A., Cockfield, S. et al. (2002) Mutant chromatin remodeling protein SMARCAL1 causes Schimke immuno-osseous dysplasia. Nat. Genet., 30, 215-220.
9. Dyggve, H.V., Melchior, J.C. and Clausen, J. (1962) Morquio-Ulrich's disease: an inborn error of metabolism? Arch. Dis. Child., 37, 525-534.
10. Toledo, S.P., Saldanha, P.H., Lamego, C., Mourao, P.A., Dietrich, C.P. and Mattar, E. (1979) Dyggve-Melchior-Clausen syndrome: genetic studies and report of affected sibs. Am. J. Med. Genet., 4, 255-261.
11. Beighton, P. (1990) Dyggve-Melchior-Clausen syndrome. J. Med. Genet., 27, 512-515.
12. Spranger, J., Maroteaux, P. and Der Kaloustian, V.M. (1975) The Dyggve-Melchior-Clausen syndrome. Radiology, 114, 415-421.
13. Morquio, L. (1929) Sur une forme de dystrophie osseuse familiale. Bull. Soc. Pediatr., 27, 145-152.
14. Thauvin-Robinet, C., El Ghouzzi, V., Chemaitilly, W., Dagoneau, N., Boute, O., Viot, G., Megarbane, A., Sefiani, A., Munnich, A., Le Merrer, M. and Cormier-Daire, V. (2002) Homozygosity mapping of a Dyggve-Melchior-Clausen-syndrome gene to chromosome 18q21.1. J. Med. Genet., 39, 714-717.
15. Ehtesham, N., Cantor, R.M., King, L.M., Reinker, K., Powell, B.R., Shanske, A., Unger, S., Rimoin, D.L. and Cohn, D.H. (2002) Evidence that Smith-McCort Dysplasia, and Dyggve-Melchior-Clausen Dysplasia are allelic disorders that result from mutations in a gene on chromosome 18q12. Am. J. Hum. Genet., 71, 947-951.
16. Lapierre, L.A., Kumar, R., Hales, C.M., Navarre, J., Bhartur, S.G., Burnette, J.O., Provance, D.W, Mercer, J.A., Bähler, M. and Goldenring, J.R. (2001) Myosin Vb is associated with plasma membrane recycling systems. Mol. Biol. Cell, 12, 1843-1857.
17. Abe, H., Ohtake, A., Yamamoto, S., Satoh, Y., Amaya Y., Takiguchi, M., Sakuraba, H., Suzuki,Y., Mori, M. and Nimi, H. (1993) Cloning and sequence analysis of a full length cDNA encoding human mitochondrial 3-oxoacyl-CoA thiolase. Biochem. Biophys. Acta, 1216, 304-306.
18. Boutin, J.A. (1997) Myristoylation. Cell Signal, 1, 15-35.
19. Tikkanen, R., Obermuller, S., Denzer, K., Pungitore, R., Geuze, H.J., Von Figura, K. and Honing, S. (2000) The dileucine motif within the tail of MPR46 is required for sorting of the receptor in endosomes. Traffic, 1, 631-640.
20. Sharma, N., Crane, A., Clement, J.P, Gonzalez, G., Babenko, A.P., Bryan, J. and Aguilar-Bryan, L. (1999) The C terminus of SUR1 is required for trafficking of KATP channels. J. Biol. Chem., 274, 20628-20632.
21. Haft, C.R., Klausner, R.D. and Taylor, S.I. (1994) Involvement of dileucine motifs in the internalization and degradation of the insulin receptor. J. Biol. Chem., 269, 26286-26294.
22. Ioannou, Y.A. (2000) The structure and function of the Niemann-Pick C1 protein. Mol. Genet. Metab., 71, 175-181.
23. Engfeldt, B., Bui, T.H., Eklof, O., Hjerpe,A., Reinholt, F.P., Ritzen, E.M. and Wikstrom, B., (1983) Dyggve-Melchior-Clausen dysplasia. Morphological and biochemical findings in cartilage growth plate. Acta Paediatr. Scand., 72, 269-274.
24. Horton, W.A. and Scott, C.I. (1982) Dyggve-Melchior-Clausen syndrome: a histo-chemical study of the growth plate. J. Bone Joint Surg. Am., 64, 408-415.
25. Beck, M., Lucke, R. and Kresse, H. (1983) Dyggve-Melchior-Clausen syndrome: normal degradation of proteodermatan sulfate, proteokeratan sulfate and heparan sulfate. Clin. Chim. Acta, 141, 7-15.
26. Thompson, J.D., Higgins, D.G. and Gibson, T.J. (1994) CLUSTAL W: improving the sensitivity of progressive multiple sequence alignment through sequence weighting, position-specific gap penalties and weight matrix choice. Nucl. Acids Res., 21, 4673-4680.