Ann Lab Med.  2019 Jan;39(1):105-108. 10.3343/alm.2019.39.1.105.

Compound Heterozygous Pathogenic Variants of the 15-Hydroxyprostaglandin Dehydrogenase Gene in a Patient With Hypertrophic Osteoarthropathy: First Case in Korea

• Ryu MR
• Yang JH
• Rhee SY
• Cho A
• Kim SY
• Ki CS

• KMID: 2420281
• DOI: http://doi.org/10.3343/alm.2019.39.1.105

Abstract

No abstract available.

MeSH Terms

Humans
Korea*
Oxidoreductases*
Oxidoreductases

Figure

• 

  Fig. 1 Clinical and radiological findings of a 21-year-old male Korean patient: (A) digital clubbing, (B) abnormal thickening of the feet, and (C) hand X-ray showing soft tissue swelling of the fingers.

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  Fig. 2 Pedigree and sequence chromatogram of the 15-hydroxyprostaglandin dehydrogenase (HPGD) gene variants identified in a 21-year-old male Korean patient and his parents. (A) Family pedigree of the patient. The patient's younger sister does not have any variant. Male, square; female, circle; filled symbols, affected; half-filled symbols, heterozygous carriers; arrow, patient. (B) The patient harbors compound heterozygous variants, c.310_311delCT and c.527_528delTG, which are carried by his mother and father, respectively.

Reference

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