title: Mutational analysis of the DTDST gene in a fetus with achondrogenesis type 1B.
abstract: We describe a diastrophic dysplasia (DTDST) gene mutation in a Japanese male fetus with achondrogenesis type 1B and his relatives. Diagnosis in the fetus was based on roentgenographic data and pathological findings of bones and cartilage. Nucleotide sequencing of the DTDST gene demonstrated that the fetus was homozygous for both delVal340 and Thr689Ser and his parents and a healthy brother were heterozygous for the mutations. The former mutation was reported previously in patients with achondrogenesis type 1B, and the latter was detected in 5 alleles of 26 healthy Japanese individuals. These data suggest that delVal340 is associated with achondrogenesis type 1B in the Japanese, whereas a serine to threonine substitution is most likely polymorphic.
authors.affiliation: Department of Environmental Medicine, Osaka Medical Center and Institute for Maternal and Child Health, Izumi, Japan.
authors.forename: G
authors.initials: G
authors.lastname: Cai
authors.forename: M
authors.initials: M
authors.lastname: Nakayama
authors.forename: Y
authors.initials: Y
authors.lastname: Hiraki
authors.forename: K
authors.initials: K
authors.lastname: Ozono
mesh_terms: D027321:Anion Transport Proteins; D002352:Carrier Proteins / Q000235:genetics*; D004252:DNA Mutational Analysis; D006801:Humans; D008297:Male; D026901:Membrane Transport Proteins; D009154:Mutation; D010009:Osteochondrodysplasias / Q000196:embryology* / Q000235:genetics*; D017354:Point Mutation; D017384:Sequence Deletion; D000076988:Sulfate Transporters; D018911:Trinucleotide Repeats
chemical_list: D027321:Anion Transport Proteins; D002352:Carrier Proteins; D026901:Membrane Transport Proteins; C089651:SLC26A2 protein, human; D000076988:Sulfate Transporters