title: Homozygous mutations in the 15-hydroxyprostaglandin dehydrogenase gene in patients with primary hypertrophic osteoarthropathy.
abstract: 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.
authors.affiliation: Division of Clinical Molecular Pathology and Genetics, Department of Pediatrics, Ankara University School of Medicine, Dikimevi, 06100 Ankara, Turkey.
authors.forename: Berrin
authors.initials: B
authors.lastname: Yüksel-Konuk
authors.forename: Aslı
authors.initials: A
authors.lastname: Sırmacı
authors.forename: Gülen Ece
authors.initials: GE
authors.lastname: Ayten
authors.forename: Mustafa
authors.initials: M
authors.lastname: Özdemir
authors.forename: İdil
authors.initials: İ
authors.lastname: Aslan
authors.forename: Ülkü
authors.initials: Ü
authors.lastname: Yılmaz-Turay
authors.forename: Yurdanur
authors.initials: Y
authors.lastname: Erdoğan
authors.forename: Mustafa
authors.initials: M
authors.lastname: Tekin
mesh_terms: 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
chemical_list: D006911:Hydroxyprostaglandin Dehydrogenases; C035859:15-hydroxyprostaglandin dehydrogenase