Homozygous mutations in the 15-hydroxyprostaglandin dehydrogenase gene in patients with primary hypertrophic osteoarthropathy.
Rheumatol Int
; 30(1): 39-43, 2009 Nov.
Article
em En
| MEDLINE
| ID: mdl-19306095
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.
Texto completo:
1
Base de dados:
MEDLINE
Assunto principal:
Osteoartropatia Hipertrófica Primária
/
Hidroxiprostaglandina Desidrogenases
/
Homozigoto
/
Mutação
Tipo de estudo:
Observational_studies
Limite:
Adolescent
/
Adult
/
Child
/
Female
/
Humans
/
Male
País/Região como assunto:
Asia
Idioma:
En
Revista:
Rheumatol Int
Ano de publicação:
2009
Tipo de documento:
Article
País de afiliação:
Turquia