Goldberg–Shprintzen syndrome

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.[2]

Goldberg–Shprintzen syndrome
Other namesGoldberg-Shprintzen megacolon syndrome [1]
Goldberg–Shprintzen syndrome is inherited in an autosomal recessive manner

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. "Goldberg-Shprintzen megacolon syndrome | Genetic and Rare Diseases Information Center (GARD) – an NCATS Program". rarediseases.info.nih.gov. Retrieved 17 July 2019.
  2. 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. PMID 23427148 – via hmg.oxfordjournals.org.




Classification
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