J Korean Med Sci.  2010 Jul;25(7):1105-1108. 10.3346/jkms.2010.25.7.1105.

Autosomal Recessive Multiple Epiphyseal Dysplasia in a Korean Girl Caused by Novel Compound Heterozygous Mutations in the DTDST (SLC26A2) Gene

• Cho TJ
• Kim OH
• Lee HR
• Shin SJ
• Yoo WJ
• Park WY
• Park SS
• Cho SI
• Choi IH

• KMID: 1792968
• DOI: http://doi.org/10.3346/jkms.2010.25.7.1105

Abstract

Multiple epiphyseal dysplasia is caused by heterogenous genotypes involving more than six genes. Recessive mutations in the DTDST gene cause a phenotype of recessive multiple epiphyseal dysplasia (rMED). The authors report a 9-yr old Korean girl with the rMED phenotype having novel compound heterozygous mutations in the DTDST gene, which were inherited from both parents. This is the first Korean rMED case attributed to DTDST mutations, and expands the spectrum of diseases caused by DTDST mutations.

Keyword

Osteochondrodysplasias; Diastrophic Dysplasia Sulfate Transporter

MeSH Terms

Animals
Anion Transport Proteins/*genetics
Asian Continental Ancestry Group/genetics
Child
DNA Mutational Analysis
Female
*Genes, Recessive
Genotype
*Heterozygote
Humans
Korea
*Mutation
Osteochondrodysplasias/*genetics
Phenotype

Figure

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  Fig. 1 The proband aged 9 yr. Mild genu valgum, forefoot adduction, and hindfoot valgus were noted (A-C). Radiographs showed genu valgum with flattening of epiphyses at the hips, knees, and ankles (D); double layered patella (E); shortening of the metacarpals and phalanges, premature physeal closure at the middle phalanges, cone-shaped epiphyses of the proximal phalanges (F); twisted, oblique arrays of the metatarsals, triangular medial cuneiforms (G).

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  Fig. 2 Sequencing results of the DTDST gene showed compound heterozygous mutations of c.485_486delTG and c.1153G>A in the proband. The c.485_486delTG mutation was inherited maternally, and the c.1153G>A point mutation paternally.

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  Fig. 3 Conservation of p.D385 in DTDST protein among different species.

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  Fig. 4 Proband dermal fibroblast sulfate uptake was about 65-75% that of the normal control.

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