Homozygous mutations in the 15-hydroxyprostaglandin dehydrogenase gene in patients with primary hypertrophic osteoarthropathy.
Mutations in HPGD have recently been reported to cause primary hypertrophic osteoarthropathy (PHO), a rare genetic disease characterized by digital clubbing, pachydermia, and periostosis. We screened HPGD mutations in six patients from three unrelated Turkish families with PHO, in which we showed one previously reported, p.A140P, and one novel, p.M1L, homozygous mutations. Both mutations co-segregated with the phenotype in all three families and were absent in 100 Turkish controls. These results confirm the presence of biallelic HPGD mutations in patients with PHO in an independent series from a different population.
Yüksel-Konuk
Berrin
B
Division of Clinical Molecular Pathology and Genetics, Department of Pediatrics, Ankara University School of Medicine, Dikimevi, 06100 Ankara, Turkey.
Sırmacı
Aslı
A
Ayten
Gülen Ece
GE
Özdemir
Mustafa
M
Aslan
İdil
İ
Yılmaz-Turay
Ülkü
Ü
Erdoğan
Yurdanur
Y
Tekin
Mustafa
M
D000293:Adolescent; D000328:Adult; D001483:Base Sequence; D016022:Case-Control Studies; D002648:Child; D004252:DNA Mutational Analysis; D005260:Female; D020022:Genetic Predisposition to Disease; D040941:Heredity; D006720:Homozygote; D006801:Humans; D006911:Hydroxyprostaglandin Dehydrogenases / Q000235:genetics*; D008297:Male; D008969:Molecular Sequence Data; D009154:Mutation; D010004:Osteoarthropathy, Primary Hypertrophic / Q000201:enzymology / Q000235:genetics*; D010375:Pedigree; D010641:Phenotype; D014421:Turkey; D055815:Young Adult
D006911:Hydroxyprostaglandin Dehydrogenases; C035859:15-hydroxyprostaglandin dehydrogenase