Goldberg–Shprintzen syndrome
| Goldberg–Shprintzen syndrome | |
|---|---|
| Other names | Goldberg-Shprintzen megacolon syndrome [1] |
 | |
| 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 filaments. KBP may play a key role in cytoskeleton formation and neurite growth.[2]
Hirschsprung's disease may be part of the presentation. Developmental abnormalities shown by people with Goldberg–Shprintzen syndrome may be ocular (ptosis, hyperopia, or megalocornea), cardiac, urogenital (vesicoureteral reflux, multicystic renal dysplasia), and skeletal (oligodontia, scoliosis, high-arched palate).[citation needed]
References[]
- ^ "Goldberg-Shprintzen megacolon syndrome | Genetic and Rare Diseases Information Center (GARD) – an NCATS Program". rarediseases.info.nih.gov. Retrieved 17 July 2019.
- ^ 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.
External links[]
 | This genetic disorder article is a stub. You can help Wikipedia by . |
Categories:
- Congenital disorders
- Syndromes
- Genetic disorder stubs