A phenotype intermediate between desbuquois dysplasia and diastrophic dysplasia secondary to mutations in DTDST

American Journal of Medical Genetics, Part A

Volumn 146, Issue 22, 2008, Pages 2920-2924

  Panzer, K M ^a   Lachman, R ^b   Modaff, P ^a   Pauli, R M ^a,c  

^a UNIVERSITY OF WISCONSIN MADISON   (United States)

^b CEDARS SINAI MEDICAL CENTER   (United States)

^c UNIVERSITY OF WISCONSIN SCHOOL OF MEDICINE AND PUBLIC HEALTH   (United States)

Author keywords

Bone dysplasia; Family of bone dysplasias; Locus heterogeneity; Phenotypic heterogeneity; Variable expression

Indexed keywords

ARTICLE; AUTOSOMAL RECESSIVE DISORDER; BONE DYSPLASIA; BONE RADIOGRAPHY; CASE REPORT; CHILD; CLINICAL FEATURE; DESBUQUOIS DYSPLASIA; DIASTROPHIC DYSPLASIA; DTDST GENE; FEMALE; GENE; GENE MUTATION; HUMAN; PATIENT COUNSELING; PHENOTYPE; PRIORITY JOURNAL; SCOLIOSIS; SHORT STATURE;

ANION TRANSPORT PROTEINS; BONE DISEASES, DEVELOPMENTAL; CHILD, PRESCHOOL; CRANIOFACIAL ABNORMALITIES; DIAGNOSIS, DIFFERENTIAL; FEMALE; HUMANS; MUTATION; PHENOTYPE;

EID: 56049097709     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.32543     Document Type: Article

References (21)

1. Ballhausen D, Bonafé L, Terhal P, Unger SL, Bellus G, Classen M, Hamel BC, Spranger J, Zabel B, Cohn DH, Cole WG, Hecht JT, Superti-Furga A. 2003. Recessive multiple epiphyseal dysplasia (rMED): Phenotype delineation in eighteen homozygotes for DTDST mutation R279W. J Med Genet 40:65-71.
2. Bieganski T, Faflik J, Kozlowski K. 2000. Diastrophic dysplasia with severe primary kyphosis and 'monkey wrench' appearance of the femora. Australas Radiol 44:450-453.
3. Desbuquois G, Grenier B, Michel J, Rossignol C. 1966. Nanisme chondrodystrophique avec ossification anarchique et polymalformations chez deux soeurs. Arch Fr Pediatr 23:573-587.
4. Faivre L, Le Merrer M, Al-Gazali LI, Ausems MGEM, Bitoun P, Bacq D, Maroteaux P, Munnich A, Cormier-Daire V. 2003. Homozygosity mapping of a Desbuquois dysplasia locus to chromosome 17q25.3. J Med Genet 40:282-284.
5. Faivre L, Le Merrer M, Zerres K, Ben Hariz M, Scheffer D, Young ID, Maroteaux P, Munnich A, Cormier-Daire V. 2004a. Clinical and genetic heterogeneity in Desbuquois dysplasia. Am J Med Genet Part A 124A:29-32.
6. Faivre L, Cormier-Daire V, Eliott A, Field F, Munnich A, Maroteaux P, Le Merrer M, Lachman R. 2004b. Desbuquois dysplasia, a reevaluation with abnormal and "normal" hands: Radiographic manifestations. Am J Med Genet Part A 124A:48-53.
7. Faivre L, Cormier-Daire V, Young I, Bracq H, Finidori G, Padovani JP, Odent S, Lachman R, Munnich A, Maroteaux P, Le Merrer M. 2004c. Long-term outcome in Desbuquois dysplasia: A follow-up in four adult patients. Am J Med Genet Part A 124A:54-59.
8. Hall BD. 2001. Lethality in Desbuquois dysplasia: Three new cases. Pediatr Radiol 31:43-47.
9. Hästbacka J, de la Chapelle A, Mahtani M, Clines G, Reeve-Daly MP, Daly M, Hamilton B, Kusumi K, Trivedi B, Weaver A, Coloma A, Lovett M, Buckler A, Kaitila I, Lander E. 1994. The diastrophic dysplasia gene encodes a novel sulfate transporter: Positional cloning by fine-structure linkage disequilibruim mapping. Cell 78:1073-1087.
10. Hästbacka J, Superti-Furga A, Wilcox WR, Rimoin DL, Cohn DH, Lander ES. 1996. Atelosteogenesis type II is caused by mutations in the diastrophic dysplasia sulfate-transporter gene (DTDST): Evidence for a phenotypic series involving three chondrodysplasias. Am J Hum Genet 58:255-262.
11. Karniski L. 2001. Mutations in the diastrophic dysplasia sulfate transporter (DTDST) gene: Correlation between sulfate transport activity and chondrodysplasia phenotype. Hum Mol Genet 10:1485-1490.
12. Lachman R. 2007. Taybi and Lachman's radiology of syndromes, metabolic disorders and skeletal dysplasias. 5th edition. Philadelphia, PA: Mosby Elsevier.
13. Lachman R, Sillence D, Rimoin D, Horton W, Hall J, Scott C, Spranger J, Langer L. 1981. Diastrophic dysplasia: The death of a variant. Radiology 140:79-86.
14. Le Merrer M, Young ID, Stanescu V, Maroteaux P. 1991. Desbuquois syndrome. Eur J Pediatr 150:793-796.
15. Maeda K, Miyamoto Y, Sawai H, Karniski LP, Nakashima E, Nishimura G, Ikegawa S. 2006. A compound heterozygote harboring novel and recurrent DTDST mutations with intermediate phenotype between atelosteogenesis type II and diastrophic dysplasia. Am J Med Genet Part A 140A:1143-1147.
16. Makitie O, Savarirayan R, Bonafé L, Robertson S, Susic M, Superti-Furga A, Cole WG. 2003. Autosomal recessive multiple epiphyseal dysplasia with homozygosity for C653S in the DTDST gene: Double-layer patella as a reliable sign. Am J Med Genet Part A 122A:187-192.
17. Mégarbané A, Haddad FA, Haddad-Zebouni S, Achram M, Eich G, Le Merrer M, Superti-Furga A. 1999. Homozygosity for a novel DTDST mutation in a child with a 'broad bone-platyspondylic' variant of diastrophic dysplasia. Clin Genet 56:71-76.
18. Nishimura G, Hong HS, Kawame H, Sato S, Cai G, Ozono K. 1999. Amild variant of Desbuquois dysplasia. Eur J Pediatr 158:479-483.
19. Spranger J, Brill P, Poznanski A. 2002. Bone dysplasias: An atlas of genetic disorders of skeletal development. 2nd edition. New York, NY: Oxford University Press, Inc.
20. Superti-Furga A, Rossi A, Steinmann B, Gitzelmann R. 1996. A chondrodysplasia family produced by mutations in the diastrophic dysplasia sulfate transporter gene: Genotype/phenotype correlations. Am J Med Genet 63:144-147.
21. Twain M. 1897. 'The report of my death is an exaggeration'. New York Journal. June 2.