Genetic diagnosis for a Chinese Han family with primary hypertrophic osteoarthropathy / 中华医学遗传学杂志

ABSTRACT

<p><b>OBJECTIVE</b>To identify the genetic cause for a Chinese Han family affected with primary hypertrophic osteoarthropathy.</p><p><b>METHODS</b>Whole blood and urine samples were collected from a patient and 7 unaffected relatives of the family. The coding sequences and intron/exon boundaries of HPGD and SLCO2A1 genes of the patient were amplified with polymerase chain reaction and sequenced. The genotypes of relatives were subsequently verified. Urinary prostaglandin level was measured with enzyme-linked immunosorbent assay (ELISA).</p><p><b>RESULTS</b>A homozygous 2-bp deletion in HPGD gene (c.310_311delCT, or p.L104AfsX3) was detected in the patient, and 5 heterozygous carriers were identified in the relatives. The urinary prostaglandin E2 (PGE2) level was significantly elevated (P<0.01), while PGE-M was significantly reduced (P<0.01) in the patient.</p><p><b>CONCLUSION</b>Primary hypertrophic osteoarthropathy in this family is caused by a homozygous mutation (c.310_311delCT) in the HPGD gene.</p>