Goldberg–Shprintzen syndrome

Goldberg–Shprintzen syndrome
Goldberg–Shprintzen syndrome is inherited in an autosomal recessive manner

Goldberg–Shprintzen is a condition associated with mutations in KIAA1279 gene which encodes KIF-binding protein (KBP), a protein that may interact with microtubules and actin filament. KBP may play a key role in cytoskeleton formation and neurite growth.[1]

Hirschsprung's disease may be part of the presentation. Individuals with the syndrome exhibit ocular (ptosis, hyperopia, or megalocornea), cardiac, urogenital (vesicoureteral reflux, multicystic renal dysplasia), and skeletal (oligodontia, scoliosis, high-arched palate) developmental abnormalities.

References

  1. ↑ Drévillon, Loïc; Megarbane, André; Demeer, Bénédicte; Matar, Corine; Benit, Paule; Briand-Suleau, Audrey; Bodereau, Virginie; Ghoumid, Jamal; Nasser, Mayssa; Decrouy, Xavier; Doco-Fenzy, Martine; Rustin, Pierre; Gaillard, Dominique; Goossens, Michel; Giurgea, Irina (15 June 2013). "KBP–cytoskeleton interactions underlie developmental anomalies in Goldberg–Shprintzen syndrome". Human Molecular Genetics. 22 (12): 2387–2399. doi:10.1093/hmg/ddt083 – via hmg.oxfordjournals.org.




Classification
External resources


This article is issued from Wikipedia. The text is licensed under Creative Commons - Attribution - Sharealike. Additional terms may apply for the media files.