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.
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Authors | Berrin Yüksel-Konuk, Aslı Sırmacı, Gülen Ece Ayten, Mustafa Özdemir, İdil Aslan, Ülkü Yılmaz-Turay, Yurdanur Erdoğan, Mustafa Tekin |
Journal | Rheumatology international
(Rheumatol Int)
Vol. 30
Issue 1
Pg. 39-43
(Nov 2009)
ISSN: 1437-160X [Electronic] Germany |
PMID | 19306095
(Publication Type: Journal Article)
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Chemical References |
- Hydroxyprostaglandin Dehydrogenases
- 15-hydroxyprostaglandin dehydrogenase
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Topics |
- Adolescent
- Adult
- Base Sequence
- Case-Control Studies
- Child
- DNA Mutational Analysis
- Female
- Genetic Predisposition to Disease
- Heredity
- Homozygote
- Humans
- Hydroxyprostaglandin Dehydrogenases
(genetics)
- Male
- Molecular Sequence Data
- Mutation
- Osteoarthropathy, Primary Hypertrophic
(enzymology, genetics)
- Pedigree
- Phenotype
- Turkey
- Young Adult
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