UNC45A deficiency causes osteo-oto-hepato-enteric syndrome. It is an autosomal recessive syndrome secondary to loss of function mutations in the UNC45A gene.60
Diagnosis
The main clinical features of osteo-oto-hepato-enteric syndrome include:60
- Congenital diarrhoea
- Congenital cholestasis
- Bone fragility
- Deafness
Diagnosis is confirmed by molecular and genetic testing.
60. Esteve C, Francescatto L, Tan PL, et al. Loss-of-Function Mutations in UNC45A Cause a Syndrome Associating Cholestasis, Diarrhea, Impaired Hearing, and Bone Fragility. Am J Hum Genet 2018;102:364-74.
