Schmid type metaphyseal chondrodysplasia: A spondylometaphyseal dysplasia identical to the 'Japanese' type

Pediatric Radiology

Volumn 30, Issue 7, 2000, Pages 460-463

  Savarirayan, Ravi ^a   Cormier Daire, Valérie ^a,c   Lachman, Ralph S ^a,b,d   Rimoin, David L ^a  

^a CEDARS SINAI MEDICAL CENTER   (United States)

^b UNIVERSITY OF CALIFORNIA   (United States)

^c HÔPITAL NECKER ENFANTS MALADES   (France)

^d Intl Skeletal Dysplasia Registry   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

COLLAGEN TYPE 10; GLUTAMIC ACID; GLYCINE;

ADOLESCENT; ADULT; AMINO ACID SUBSTITUTION; ARTICLE; AUTOSOMAL DOMINANT INHERITANCE; CHONDRODYSPLASIA; CLINICAL ARTICLE; CLINICAL FEATURE; CODON; FEMALE; GENE MUTATION; HUMAN; MALE; METAPHYSIS; MISSENSE MUTATION; PRIORITY JOURNAL; RADIOGRAPHY; SPINAL CORD; VERTEBRA BODY;

EID: 0033944792     PISSN: 03010449     EISSN: None     Source Type: Journal    
DOI: 10.1007/s002470000181     Document Type: Article

References (11)

1. Lachman RS, Rimoin DL, Spranger J (1988) Metaphyseal chondrodysplasia, Schmid type. Clinical and radiographic delineation with a review of the literature. Pediatr Radiol 18: 93-102
2. Bonaventure J, Chaminade P, Maroteaux P (1995) Mutations in three subdomains of the carboxyl-terminal region of collagen type X account for most of the Schmid metaphyseal dysplasias. Hum Genet 96: 58-64
3. Wallis GA, Rash B, Sykes B, et al (1996) Mutations within the gene encoding the α1(X) chain of type X collagen (COL10A1) cause metaphyseal chondrodysplasia type Schmid but not several other forms of metaphyseal chondrodysplasia. J Med Genet 33: 450-457
4. Ikegawa S, Nishimura G, Nagai T, et al (1998) Mutation of the type X collagen gene (COL10A1) causes spondylometaphyseal dysplasia. Am J Hum Genet 63: 1659-1662
5. Hasegawa T, Kozlowski K, Nishimura G, et al (1994) Japanese type of spondylo-metaphyseal dysplasia. Pediatr Radiol 24: 194-197
6. Schmid F (1949) Beitrag zur dysostosis enchondralis metaphysearea. Monatschr Kinderheilkd 97: 393-397
7. International Working Group on Constitutional Diseases of Bone (1998) International nomenclature and classification of the osteochondrodysplasias (1997). Am J Med Genet 79: 376-382
8. Jacenko O, LuValle PA, Olsen BR (1993) Spondylometaphyseal dysplasia in mice carrying a dominant negative mutation in a matrix protein specific for cartilage-to-bone transition. Nature 365: 56-61
9. Warman ML, Abbott M, Apte SS, et al (1993) A type X collagen mutation causes Schmid metaphyseal chondrodysplasia. Nat Genet 5: 79-82
10. 618 to Val mutation in the α1(X) NC1 domain resulting in Schmid metaphyseal chondrodysplasia. J Biol Chem 270: 4558-4562
11. Rosati R, Horan GSB, Pinero GJ (1994) Normal long bone growth and development in type X collagen-null mice. Nat Genet 8: 129-135