Clin Genet. 1999 Jul;56(1):71-6.

Homozygosity for a novel DTDST mutation in a child with a 'broad bone-platyspondylic' variant of diastrophic dysplasia.

Mégarbané A, Haddad FA, Haddad-Zebouni S, Achram M, Eich G, Le Merrer M, Superti-Furga A.

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Unité de Génétique Médicale, Laboratoire de Biologie Moléculaire et Cytogénétique, Faculté de Médecine, Université Saint-Joseph, Beirut, Lebanon. megarban@dm.net.lb

Abstract

Atypical or variant forms of well-known chondrodysplasias may pose diagnostic problems. We report on a girl with clinical features suggesting diastrophic dysplasia but with unusual radiographic features including severe platyspondyly, wide metaphyses, and fibular overgrowth, which are partially reminiscent of metatropic dysplasia. The diagnosis was clarified by molecular analysis of the DTDST gene, which revealed homozygosity for a previously undescribed mutation leading to a Q454P substitution in the 10th transmembrane domain of the DTDST sulfate transporter. Molecular analysis may be of particular value in such atypical cases.

PMID:: 10466420; [PubMed - indexed for MEDLINE]

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Mutations in the diastrophic dysplasia sulfate transporter (DTDST) gene: correlation between sulfate transport activity and chondrodysplasia phenotype. [Hum Mol Genet. 2001]
Mutations in the diastrophic dysplasia sulfate transporter (DTDST) gene: correlation between sulfate transport activity and chondrodysplasia phenotype.
Karniski LP. Hum Mol Genet. 2001 Jul 1; 10(14):1485-90.
Review A chondrodysplasia family produced by mutations in the diastrophic dysplasia sulfate transporter gene: genotype/phenotype correlations. [Am J Med Genet. 1996]
Review A chondrodysplasia family produced by mutations in the diastrophic dysplasia sulfate transporter gene: genotype/phenotype correlations.
Superti-Furga A, Rossi A, Steinmann B, Gitzelmann R. Am J Med Genet. 1996 May 3; 63(1):144-7.
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. 1996]
Atelosteogenesis type II is caused by mutations in the diastrophic dysplasia sulfate-transporter gene (DTDST): evidence for a phenotypic series involving three chondrodysplasias.
Hästbacka J, Superti-Furga A, Wilcox WR, Rimoin DL, Cohn DH, Lander ES. Am J Hum Genet. 1996 Feb; 58(2):255-62.
Autosomal recessive multiple epiphyseal dysplasia with homozygosity for C653S in the DTDST gene: double-layer patella as a reliable sign. [Am J Med Genet A. 2003]
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Mäkitie O, Savarirayan R, Bonafé L, Robertson S, Susic M, Superti-Furga A, Cole WG. Am J Med Genet A. 2003 Oct 15; 122A(3):187-92.
Review Genotype-phenotype correlation in DTDST dysplasias: Atelosteogenesis type II and diastrophic dysplasia variant in one family. [Am J Med Genet A. 2010]
Review Genotype-phenotype correlation in DTDST dysplasias: Atelosteogenesis type II and diastrophic dysplasia variant in one family.
Dwyer E, Hyland J, Modaff P, Pauli RM. Am J Med Genet A. 2010 Dec; 152A(12):3043-50.

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Homozygosity for a novel DTDST mutation in a child with a 'broad bone-platyspond...
Homozygosity for a novel DTDST mutation in a child with a 'broad bone-platyspondylic' variant of diastrophic dysplasia.
Clin Genet. 1999 Jul ;56(1):71-6.

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