A chondrodysplasia family produced by mutations in the diastrophic dysplasia sulfate transporter gene: Genotype/phenotype correlations

Journal Article · Fri May 03 04:00:00 EDT 1996 · American Journal of Medical Genetics

DOI:https://doi.org/10.1002/(SICI)1096-8628(19960503)63:1<144::AID-AJMG25>3.3.CO;2-H· OSTI ID:441192

Superti-Furga, A; Steinmann, B; Gitzelmann, R ^[1]; Rossi, A ^[2]

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1. Univ. of Zurich (Switzerland)
2. Univ. of Pavia (Italy)

Achondrogenesis type 1B (ACG-1B), atelosteogenesis type 2 (AO-2), and diastrophic dysplasia (DTD) are recessively inherited chondrodysplasia of decreasing severity caused by mutations in the diastrophic dysplasia sulfate transporter (DTDST) gene on chromosome 5. In these conditions, sulfate transport across the cell membrane is impaired which results in insufficient sulfation of cartilage proteoglycans and thus in an abnormally low sulfate content of cartilage. The severity of the phenotype correlates well with the predicted effect of the underlying DTDST mutations: homozygosity or compound heterozygosity for stop codons or transmembrane domain substitutions mostly result in achondrogenesis type 1B, while other structural or regulatory mutations usually result in one of the less severe phenotypes. The chondrodysplasia arising at the DTDST locus constitute a bone dysplasia family with recessive inheritance. 28 refs., 2 tabs.

• OSTI ID: 441192
• Journal Information: American Journal of Medical Genetics, Journal Name: American Journal of Medical Genetics Journal Issue: 1 Vol. 63; ISSN 0148-7299; ISSN AJMGDA
• Country of Publication: United States
• Language: English

Related Subjects

55 BIOLOGY AND MEDICINE
BASIC STUDIES
BIOSYNTHESIS
CARTILAGE
CODONS
CORRELATIONS
GENE MUTATIONS
GENES
GENETIC MAPPING
GENETICS
GENOTYPE
HEREDITARY DISEASES
HUMAN CHROMOSOME 5
PATIENTS
PHENOTYPE
RECESSIVE MUTATIONS
SKELETAL DISEASES
SULFATES