Zespół Holt-Orama

Zespół Holt-Orama (zespół Harrisa-Osborne'a, ang. Holt-Oram syndrome, HOS) – uwarunkowany genetycznie zespół wad wrodzonych spowodowany mutacją genu TBX5 kodującego czynnik transkrypcyjny[1][2], na który składają się wrodzone wady serca i malformacje kończyn górnych.

Zaburzenia rozwojowe serca:

Zaburzenia rozwojowe kończyn górnych:

Leczenie polega na chirurgicznej korekcji stwierdzanych wad.

Chorobę opisali w 1960 roku Mary Clayton Holt i Samuel Oram[3][4]. Kolejny opis przedstawili sześć lat później Leonard C. Harris i William Phillip Osborne[5]

Przypisy

  1. ↑ Li QY., Newbury-Ecob RA., Terrett JA., Wilson DI., Curtis AR., Yi CH., Gebuhr T., Bullen PJ., Robson SC., Strachan T., Bonnet D., Lyonnet S., Young ID., Raeburn JA., Buckler AJ., Law DJ., Brook JD. Holt-Oram syndrome is caused by mutations in TBX5, a member of the Brachyury (T) gene family.. „Nature genetics”. 1 (15), s. 21–9, styczeń 1997. DOI: 10.1038/ng0197-21. PMID: 8988164. 
  2. ↑ Basson CT., Bachinsky DR., Lin RC., Levi T., Elkins JA., Soults J., Grayzel D., Kroumpouzou E., Traill TA., Leblanc-Straceski J., Renault B., Kucherlapati R., Seidman JG., Seidman CE. Mutations in human TBX5 [corrected] cause limb and cardiac malformation in Holt-Oram syndrome.. „Nature genetics”. 1 (15), s. 30–5, styczeń 1997. DOI: 10.1038/ng0197-30. PMID: 8988165. 
  3. ↑ Holt-Oram syndrome w bazie Who Named It (ang.)
  4. ↑ HOLT M., ORAM S. Familial heart disease with skeletal malformations.. „British heart journal”, s. 236–42, kwiecień 1960. PMID: 14402857. 
  5. ↑ L. C. Harris, W. P. Osborne. Congenital absence or hypoplasia of the radius with ventricular septal defect: Ventriculo-radial dysplasia. The Journal of Pediatrics, February 1966, 68 (2): 265-272.

Bibliografia

  • Harold Chen: Atlas of Genetic Diagnosis and Counselling. Totowa, NJ: Humana Press, 2006, s. 502-505. ISBN 1-59259-956-7.

Zobacz też

Linki zewnętrzne

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